Onset Of Male Facial Hair: Unravelling The Genetics

Aira on April 17, 2024

Puberty in males marks a significant physical and hormonal change period, typically between ages 9 and 14. The pituitary gland triggers the release of hormones such as testosterone and dihydrotestosterone (DHT), which are paramount in male development. 

Testosterone is responsible for the deepening of the voice, increase in muscle mass, and growth of body and facial hair. DHT, a derivative of testosterone, plays a crucial role in developing male characteristics, including facial hair growth. The sensitivity of hair follicles to these hormones varies among individuals, influencing the pattern and onset of facial hair growth.

Onset of male facial hair

Average Onset of Male Facial Hair

The emergence of facial hair generally begins at the corners of the upper lip, gradually spreading to cover the entire lip, cheeks, chin, and neck. The average onset of visible facial hair growth in males occurs around 15 to 18 years of age and is closely related to the broader timeline of puberty. 

However, it’s essential to recognize the vast variability among individuals influenced by genetic, environmental, and health-related factors. Some males may notice the first signs of facial hair as early as 11 or 12. Others may not experience significant growth until their late teens or early twenties.

Why Do Males Have Facial Hair?

The presence of facial hair in males is a trait that has evolved over millennia, with several theories suggesting its purposes. One popular theory posits that facial hair evolved through sexual selection, serving as a display of genetic fitness and maturity, potentially signaling to potential mates. 

Additionally, facial hair may have provided physical advantages, such as protection from UV radiation, cushioning blows to the face, or even aiding in thermal regulation. The role of facial hair in social signaling and hierarchy within groups has also been explored, suggesting its importance in non-verbal communication and establishing social status.

Genes and SNPs Influencing Onset of Male Facial Hair

HERC2

The HERC2 gene is located on chromosome 15 and is essential for several cellular functions. It codes for a protein that helps in tagging old or faulty proteins for breakdown and recycling, assists in transmitting important signals within cells, and may also help organize DNA in the nucleus. Essentially, this gene acts like a cellular manager, ensuring that the cell’s internal processes run smoothly and efficiently, which is crucial for maintaining overall cell health and function. A specific genetic variation in this gene (rs7402990) was found to be associated with the onset of facial hair in males. 

SOX2

The SOX2 gene plays a critical role in the development and maintenance of stem cells, ensuring they have the potential to transform into different types of cells required throughout the body. Located on chromosome 3, SOX2 is particularly important in developing the brain, eyes, and nervous system. It is a member of the SOX (SRY-related HMG-box) family of transcription factors, which are pivotal in regulating gene expression, cellular differentiation, and embryonic development. Alterations such as SNP rs1345417) and changes in the expression of the SOX2 gene can lead to developmental delays such as delayed male facial hair onset.

OCA2

The OCA2 gene, primarily known for its role in determining eye color, also influences pigmentation in other areas, including hair. Located on chromosome 15, this gene helps regulate the production of melanin, the pigment responsible for the color of skin, eyes, and hair. Variations in this gene (e.g., rs1129038) might not only lead to differences in beard color, but can also impact the age at which boys start to grow facial hair, contributing to the diversity seen in facial hair onset and characteristics among different individuals.

Due to the polygenic nature of this trait,   the LifeDNA Wellness report covers close to 100 genetic markers related to “Onset of Male Facial Hair, of which 15 top ones are featured.

Non-Genetic Factors Influencing Onset of Male Facial Hair

Aside from genetics, several non-genetic factors can influence the onset and characteristics of male facial hair. 

Nutritional status plays a role, with deficiencies in vitamins and minerals potentially delaying or reducing facial hair growth. Hormonal imbalances, such as thyroid disorders or conditions affecting testosterone levels, can also impact hair development. 

Lifestyle factors, including stress, sleep quality, and physical activity, have been shown to influence hormonal levels and, subsequently, hair growth patterns. Environmental factors, like exposure to endocrine-disrupting chemicals, can interfere with normal hormonal functions, affecting facial hair growth.

Implications of Male Facial Hair

The onset of healthy facial hair in males is an important milestone for several reasons, both from a biological and psychosocial perspective:

  • Sign of Puberty and Maturity: The development of facial hair is one of the visible signs of puberty in males, indicating the body’s maturation and the increase in androgen levels, particularly testosterone. This hormonal change triggers facial hair growth, signaling reproductive maturity and transition from youth to adulthood.
  • Genetic Health Indicators: Healthy facial hair growth can be a sign of good genetic health, as it indicates the body is producing and responding appropriately to hormones. Disorders affecting hormone levels can lead to sparse or delayed facial hair growth, which might indicate underlying health issues.
  • Psychological and Social Impact: For many men, facial hair is closely tied to identity, confidence, and self-perception. It can play a significant role in how a man perceives himself and is perceived by others. The ability to grow facial hair can affect social interactions, attractiveness, and even professional opportunities in cultures where facial hair is seen positively.
  • Cultural and Social Significance: In many cultures, facial hair is associated with virility, wisdom, and masculinity. It can also be a rite of passage, marking the transition into manhood. The style and maintenance of facial hair might also serve as a form of self-expression and a way to align with some social or cultural groups.
  • Health Indications: Beyond its hormonal underpinnings, the condition of facial hair can also reflect overall physical health. Nutritional deficiencies, stress, and certain medical conditions can affect hair quality and growth. Thus, healthy facial hair growth can be an external reflection of good health.

While the importance of facial hair varies among individuals and cultures, its onset in males is a complex interplay of genetics, health, and social factors. 

It’s crucial to recognize that the ability or choice to grow facial hair does not define masculinity or health definitively; it’s one of many attributes contributing to the diverse expressions of identity and physical development.

You may also like: How Genes Influence Onset of Male Voice Breaking

About the LifeDNA Wellness Report

The Wellness Report from LifeDNA takes a holistic approach to well-being. It covers various aspects like stress response and the potential for substance abuse. Using your genetic data, the report offers comprehensive lifestyle advice, including mindfulness techniques and other wellness strategies tailored to your genetic makeup. The aim is to optimize your overall quality of life through actionable, genetically-informed insights.

The LifeDNA Wellness report covers more than 80 genetic markers related to “Onset of Male Facial Hair.” Get yours here.

References

  1. https://www.webmd.com/teens/facial-hair-faq
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10501953/
  3. https://doi.org/10.1038/s41467-020-14451-5
  4. https://www.genecards.org/cgi-bin/carddisp.pl?gene=KDM4C
  5. https://medlineplus.gov/genetics/gene/alx4/
  6. https://www.medicalnewstoday.com/articles/how-to-grow-beard-faster

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

What Your Genetics Say About Your Menstrual Cycle Length

Aira on April 5, 2024

Overview of Menstruation

What is Menstruation?

Ever wondered about the intricacies of menstruation? This natural but complex phenomenon may have been deemed as a taboo topic a century ago but it is a vital part of every woman’s life. Learning all about menstruation and menstrual cycle length is also learning more about human physiology and the way nature has shaped our evolution.

Menstruation, commonly known as a woman’s “period,” is a natural biological process that occurs in females of reproductive age. It involves the shedding of the uterine lining, known as the endometrium, through vaginal bleeding. 

This process typically recurs monthly, though individual cycles can vary in length and intensity. On average, menstruation lasts about 3 to 7 days, with an average menstrual cycle spanning around 28 days. 

During menstruation, hormonal fluctuations, primarily involving estrogen and progesterone, orchestrate the shedding of the endometrium. The menstrual cycle consists of distinct phases, including menstruation, follicular phase, ovulation, and luteal phase, each regulated by a complex interplay between hormones and reproductive organs.

Menstrual Cycle Length

Why Does the Human Female Body Menstruate?

The phenomenon of menstruation, unique to female-bodied individuals, is a complex interplay of hormonal, physiological, and evolutionary factors. Understanding why females menstruate requires delving into the intricate mechanisms that have evolved over millions of years. 

Menstruation serves as a fundamental biological process essential for reproductive health in females. At its core, menstruation is the result of the monthly shedding of the uterine lining, known as the endometrium, which gets thicker in preparation for potential embryo implantation. This cyclic shedding occurs when there is no pregnancy and is regulated by a delicate balance of hormones, including estrogen and progesterone.

Evolutionarily, menstruation is believed to have evolved as a mechanism to ensure the survival of the species by facilitating the shedding of old, potentially damaged endometrial tissue and preparing the uterus for a new cycle of fertility. Despite its physiological significance, menstruation can also bring about discomfort and challenges for individuals experiencing it.

By unraveling the underlying reasons behind menstruation, we gain valuable insights into the complexities of human reproductive biology and the remarkable adaptations that have shaped our species over time. 

Can Other Species Menstruate?

Curiosity about menstruation often extends beyond human biology, leading to questions about whether other species undergo a similar reproductive process. While menstruation is primarily associated with humans and certain primate species, it’s interesting to explore whether menstruation occurs in other members of the animal kingdom.

Although menstruation is a distinctive feature of the human reproductive system, it is not exclusive to our species. Other primates, such as apes and monkeys, also experience menstruation. However, the occurrence and nature of menstruation vary widely across different animal taxa.

In non-human primates, menstruation is characterized by the shedding of the uterine lining, similar to humans. Hormonal fluctuations influence this process and typically coincide with the reproductive cycle. However, the duration and frequency of menstruation can differ significantly between species.

Outside of primates, menstruation is relatively rare in the animal kingdom. Some species, such as certain bats and shrews, undergo a process similar to menstruation, but it is not as well-documented or understood. In most mammals, including domestic pets like dogs and cats, the reproductive cycle differs from menstruation, with the uterine lining being reabsorbed rather than shed.

While menstruation occurs in a few select species beyond humans, its prevalence and characteristics vary widely. Understanding menstruation across different animals provides valuable insights into the diversity of reproductive strategies in nature.

What is a Menstrual Cycle Length?

The menstrual cycle length refers to the number of days between the start of one menstrual period and the start of the next. While it’s often depicted as a standard 28-day cycle, the reality is far more varied. Scientific research indicates that menstrual cycles can range anywhere from 21 to 35 days on average, with deviations from this range still considered normal for many women.

At the heart of the menstrual cycle are hormonal fluctuations orchestrated by the hypothalamus, pituitary gland, and ovaries. These hormones drive the cyclical changes in the uterus, preparing it for potential pregnancy each month. The cycle typically consists of three main phases: the follicular phase, ovulation, and the luteal phase.

Several factors can influence the length of the menstrual cycle, including age, genetics, hormonal balance, stress levels, and overall health. Adolescents and women approaching menopause often experience more irregular cycle lengths due to hormonal changes. Additionally, lifestyle factors such as excessive exercise, significant weight fluctuations, and certain medications can impact cycle length.

Understanding one’s menstrual cycle length can provide valuable insights into reproductive health and fertility. Monitoring any irregularities or significant deviations from the average cycle length can help individuals identify potential health concerns and seek appropriate medical advice. Ultimately, recognizing the variability in menstrual cycle length empowers individuals to take control of their reproductive health journey.

What Can Affect Menstrual Cycle Length?

Genetic Factors

Understanding and managing menstrual cycle length is crucial for maintaining reproductive health. Recent studies, such as a GWAS conducted in 2018 have shed light on the genetic factors influencing cycle length, particularly certain genetic locations harboring genes like FSHB, DOCK5/GNRH1, PGR, NR5A2, and IGF-2/INS-IGF2. These genes play key roles in regulating hormone levels and ovarian function, such as the FSHB gene which codes for the beta-subunit of the follicle-stimulating hormone.

The research involving over 44,000 women of European ancestry identified several genetic signals associated with menstrual cycle length. For example, variants near the FSHB gene, such as the SNP rs11031006,  showed a strong association with cycle length. Genetic variants near other genes like NR5A2, involved in steroidogenesis, and INS-IGF2, implicated in growth regulation, also exhibited significant associations.

Understanding the genetic basis of menstrual cycle length not only enhances our knowledge of reproductive biology but also provides insights into related conditions like polycystic ovary syndrome (PCOS) and endometriosis. Genetic correlation analyses have also revealed potential links between menstrual cycle length and factors like age at menarche and menopause.

By unraveling the genetic underpinnings of menstrual cycle regulation, researchers aim to improve our understanding of reproductive health and develop targeted interventions for menstrual disorders. This study underscores the importance of personalized approaches to women’s health, taking into account individual genetic variations.

Environmental Factors

Environmental factors play a significant role in influencing menstrual cycle length, highlighting the intricate relationship between our bodies and the world around us. Here are several key environmental factors known to impact menstrual cycle length:

  1. Stress: Psychological stress can disrupt the delicate balance of hormones regulating the menstrual cycle. High levels of stress can lead to irregular cycles or even missed periods. Research suggests that chronic stress can affect the functioning of the hypothalamic-pituitary-adrenal (HPA) axis, which in turn influences the release of reproductive hormones like estrogen and progesterone.
  2. Nutrition: Adequate nutrition is essential for maintaining regular menstrual cycles. Both undernutrition and overnutrition can disrupt hormonal balance and affect cycle length. For instance, extreme weight loss or low body fat percentage, commonly seen in individuals with eating disorders or intense athletes, can lead to irregular or absent periods. On the other hand, obesity and high body fat levels can also disrupt hormonal regulation, resulting in irregular cycles.
  3. Exercise: While regular exercise is beneficial for overall health, excessive or intense physical activity can impact menstrual cycle length. Intense training regimens, particularly endurance sports, can lead to disruptions in hormonal balance and irregular menstrual cycles. This phenomenon, known as exercise-induced amenorrhea, is thought to result from alterations in the hypothalamic-pituitary-ovarian axis.
  4. Environmental Toxins: Exposure to environmental toxins, such as endocrine-disrupting chemicals (EDCs), can interfere with hormone production and regulation, potentially affecting menstrual cycle length. EDCs, found in pesticides, plastics, and certain consumer products, can mimic or block the action of natural hormones in the body, leading to hormonal imbalances and menstrual irregularities.
  5. Shift work and Light Exposure: Disruption of the body’s natural circadian rhythm, often experienced by individuals working night shifts or irregular schedules, can impact menstrual cycle length. Research suggests that exposure to artificial light at night can suppress melatonin production, a hormone that regulates the sleep-wake cycle, and may also influence reproductive hormone secretion.
  6. Temperature Extremes: Extreme temperatures, whether hot or cold, can disrupt hormonal balance and affect menstrual cycle length. Studies have shown that exposure to extreme heat or cold stressors can alter the functioning of the hypothalamus and pituitary gland, leading to irregularities in menstrual cycles.

Understanding the influence of these environmental factors on menstrual cycle length is crucial for maintaining reproductive health. By adopting healthy lifestyle habits, minimizing exposure to environmental toxins, and managing stress levels, individuals can support the regularity of their menstrual cycles and promote overall well-being.

How Do You Calculate Menstrual Cycle Length?

Calculating menstrual cycle length involves determining the number of days between the start of one menstrual period and the start of the next. To do this, you need to track your menstrual cycles over several months to identify patterns and establish an average cycle length.

Begin by marking the first day of your period as day one of your menstrual cycle. Continue tracking each day until the start of your next period. The number of days between these two dates represents the length of your menstrual cycle.

It’s important to note that menstrual cycle length can vary from month to month and from person to person. Factors such as hormonal fluctuations, stress, lifestyle habits, and underlying health conditions can influence cycle length. Therefore, it’s advisable to track your cycles over several months to get a more accurate picture of your average cycle length.

Using a menstrual cycle tracking app or calendar can help streamline the process and provide insights into your menstrual patterns. Additionally, consulting with a healthcare provider can offer guidance and support in tracking and interpreting menstrual cycle data, especially if you have concerns about irregularities or fertility issues. 

Is it Normal for Menstrual Cycles to Change?

Yes, it is normal for menstrual cycles to change over time and to vary from month to month. Scientific research indicates that fluctuations in menstrual cycle length and pattern are common occurrences in many women’s reproductive lives.

Several factors can contribute to changes in menstrual cycles, including hormonal fluctuations, stress levels, lifestyle habits, age, and underlying health conditions. For example, during adolescence and perimenopause, hormonal shifts can cause irregular cycles as the body adjusts to changes in hormone levels. Additionally, fluctuations in weight, exercise habits, and stress levels can impact the regularity of menstrual cycles.

While occasional changes in menstrual cycles are generally normal, significant or persistent alterations may warrant further evaluation by a healthcare provider. Irregularities such as unusually short or long cycles, missed periods, or excessive bleeding could be indicative of underlying health concerns that require medical attention.

Understanding that menstrual cycles can change over time helps individuals better navigate their reproductive health journey. By monitoring and tracking menstrual cycles and seeking medical guidance when needed, individuals can maintain optimal reproductive health and overall well-being.

Does Menstrual Cycle Length Affect Ovulation?

Yes, menstrual cycle length can affect ovulation, as the timing of ovulation is closely linked to the length of the menstrual cycle. Ovulation typically occurs around the midpoint of the menstrual cycle, with variations depending on cycle length.

In a typical 28-day menstrual cycle, ovulation usually occurs around day 14. However, in shorter cycles, ovulation may occur earlier, while in longer cycles, ovulation may be delayed. This timing is regulated by the complex interplay of hormones, including estrogen and luteinizing hormone (LH), which trigger the release of an egg from the ovary.

Understanding the relationship between menstrual cycle length and ovulation is crucial for those trying to conceive or avoid pregnancy. Tracking menstrual cycles and monitoring signs of ovulation, such as changes in cervical mucus or basal body temperature, can help predict fertile days and optimize timing for conception.

Irregularities in menstrual cycle length can sometimes indicate underlying issues affecting ovulation, such as hormonal imbalances or polycystic ovary syndrome (PCOS). In such cases, seeking medical advice from a healthcare provider can help identify and address any potential fertility concerns.

How to Manage and Regulate Your Menstrual Cycle Length

Managing and regulating menstrual cycle length involves adopting healthy lifestyle habits and addressing underlying factors that may influence reproductive health. Here are several evidence-based strategies to help manage and regulate your menstrual cycle:

Maintain a Balanced Diet

Consuming a nutritious diet rich in fruits, vegetables, whole grains, and lean proteins can support hormonal balance and regulate menstrual cycles. Aim to include foods high in essential nutrients such as iron, calcium, and omega-3 fatty acids, which play key roles in reproductive health.

Manage Stress

Chronic stress can disrupt the hypothalamic-pituitary-adrenal (HPA) axis and affect hormonal balance, leading to irregular menstrual cycles. Incorporate stress-reduction techniques such as mindfulness, yoga, meditation, and regular exercise to help manage stress levels and promote hormonal equilibrium.

Achieve a Healthy Weight

Both underweight and overweight individuals may experience irregular menstrual cycles due to disruptions in hormone production. Maintaining a healthy weight through regular exercise and a balanced diet can help regulate menstrual cycle length.

Get Adequate Sleep

Prioritize quality sleep, aiming for 7 to 9 hours per night, as inadequate sleep can disrupt hormone production and menstrual cycle regulation. Establish a consistent sleep schedule and create a relaxing bedtime routine to support hormonal balance.

Limit Alcohol and Caffeine

Excessive alcohol and caffeine intake can interfere with hormone levels and menstrual cycle regulation. Limit consumption of alcoholic beverages and caffeinated drinks to support reproductive health.

Avoid Smoking

Smoking has been linked to menstrual irregularities and can disrupt hormone balance. If you smoke, consider quitting to improve reproductive health and regulate menstrual cycles.

Monitor Medications

Certain medications, such as hormonal contraceptives, antidepressants, and antipsychotics, may impact menstrual cycle length. Consult with a healthcare provider to discuss the potential effects of medications on menstrual cycles and explore alternative options if needed.

Address Underlying Health Conditions

Conditions such as polycystic ovary syndrome (PCOS), thyroid disorders, and reproductive tract infections can contribute to irregular menstrual cycles. Seek medical evaluation and treatment for underlying health issues to help regulate menstrual cycle length.

Track Menstrual Cycles

Keep a menstrual calendar or use a tracking app to monitor the length and pattern of your menstrual cycles. Tracking ovulation signs such as basal body temperature, cervical mucus changes, and ovulation predictor kits can help identify fertile days and optimize timing for conception if desired.

By implementing these strategies and addressing underlying factors influencing menstrual cycle length, individuals can promote reproductive health and maintain regular, predictable menstrual cycles. If you experience persistent irregularities or have concerns about your menstrual cycles, consult with a healthcare provider for personalized guidance and support.

LifeDNA’s Menstrual Cycle Length Trait Report

Discover the power of personalized wellness with LifeDNA’s Menstrual Cycle Length Trait Report. Our scientifically-backed and comprehensive Wellness Report provides invaluable insights into your unique genetic profile, helping you understand what your body needs to thrive.

Understanding your menstrual cycle length is essential for optimizing reproductive health and overall well-being. With LifeDNA’s Menstrual Cycle Length Trait Report, you’ll gain insights into factors influencing your cycle, empowering you to make informed decisions about your well-being.

But that’s not all – explore other reports under our Wellness Report umbrella, including the Diet and DNA Damage, Longevity, and Appendicitis trait reports. With seven main report categories and nearly 200 trait reports available, LifeDNA offers a holistic approach to wellness tailored to your genetic makeup.

Embark on your wellness journey today and unlock the secrets of your genetic blueprint. Take the first step towards a healthier, happier life by availing of LifeDNA’s plans. Start living your best life with personalized insights from LifeDNA – because when it comes to your well-being, knowledge is power.

Summary

  • Menstruation, a natural biological process, involves shedding the uterine lining through vaginal bleeding and recurs monthly in females of reproductive age.
  • Hormonal fluctuations, primarily involving estrogen and progesterone, regulate the menstrual cycle, which consists of distinct phases like menstruation, follicular phase, ovulation, and luteal phase.
  • Genetics play a significant role in menstrual cycle length, with genes like FSHB, GNRH1, PGR, NR5A2, and INS-IGF2 influencing cycle length through hormonal regulation and ovarian function.
  • Other factors affecting menstrual cycle length include environmental factors such as stress, nutrition, exercise, exposure to toxins, shift work, and temperature extremes.
  • Calculating menstrual cycle length involves tracking the number of days between the start of one period and the next over several months to identify patterns and establish an average cycle length.
  • It’s normal for menstrual cycles to change over time and vary from month to month due to factors like hormonal fluctuations, stress, age, and underlying health conditions.
  • Menstrual cycle length can affect ovulation, with ovulation typically occurring around the midpoint of the cycle; irregularities in cycle length may indicate underlying fertility concerns.
  • Managing and regulating menstrual cycle length involves adopting healthy lifestyle habits, such as maintaining a balanced diet, managing stress, achieving a healthy weight, getting adequate sleep, limiting alcohol and caffeine intake, avoiding smoking, monitoring medications, addressing underlying health conditions, and tracking menstrual cycles for fertility awareness.

References

  1. https://my.clevelandclinic.org/health/articles/10132-menstrual-cycle
  2. https://www.cancer.gov/publications/dictionaries/cancer-terms/def/endometrium
  3. https://my.clevelandclinic.org/health/body/24562-progesterone
  4. https://my.clevelandclinic.org/health/body/22353-estrogen
  5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3528014/
  6. https://academic.oup.com/hmg/article/27/24/4323/5092468 
  7. https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/menstrual-cycle
  8. https://www.mayoclinic.org/healthy-lifestyle/womens-health/in-depth/menstrual-cycle/art-20047186
  9. https://www.utphysicians.com/how-stress-can-affect-your-menstrual-cycle/#:~:text=If%20the%20stress%20is%20short,culprits%20of%20a%20delayed%20cycle.
  10. https://www.verywellhealth.com/exercise-effects-on-menstruation-4104136#:~:text=Intense%20exercise%20can%20cause%20changes,sometimes%2C%20no%20period%20at%20all.
  11. https://www.americanscientist.org/article/how-endocrine-disruptors-affect-menstruation
  12. https://www.always.co.uk/en-gb/tips-and-advice-for-girls-and-parents/my-period/how-to-calculate-your-menstrual-cycle/
  13. https://my.clevelandclinic.org/health/diseases/14633-abnormal-menstruation-periods
  14. https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/ovulation
  15. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057754/#:~:text=The%20hypothalamic%2Dpituitary%2Dadrenal%20axis%20(HPA)%20is%20the,Breedlove%20and%20Watson%2C%202013).
  16. https://pubmed.ncbi.nlm.nih.gov/8178900/#:~:text=Hormonal%20contraceptives%20may%20have%202,the%20hormones%20on%20day%2021.
  17. https://www.greenbrooktms.com/understanding-the-link-between-depression-and-the-menstrual-cycle#:~:text=Can%20Antidepressants%20Affect%20My%20Menstrual,%2C%20heavy%2C%20or%20irregular%20periods.
  18. https://www.hindawi.com/journals/schizort/2013/502697/
  19. https://www.who.int/news-room/fact-sheets/detail/polycystic-ovary-syndrome?gad_source=1&gclid=Cj0KCQjwwYSwBhDcARIsAOyL0fhoUgkQv_Sl1FLUBLJA6nT2ttw92fDPp_mYvJGkUPsGrv7qIvQ28BEaAsuUEALw_wcB

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports have not been evaluated by the Food and Drug Administration. The contents on our website and our reports are for informational purposes only, and are not intended to diagnose any medical condition, replace the advice of a healthcare professional, or provide any medical advice, diagnosis, or treatment. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results. The testimonials featured may have used more than one LifeDNA or LifeDNA vendors’ product or reports.

Understanding Nearsightedness and Genetics

Aira on April 2, 2024

Nearsightedness, also known as myopia, is a prevalent vision condition affecting a significant portion of the population. This condition can make distant objects appear blurry, while near objects remain clear.

Nearsightedness

The Science Behind Blurry Vision

The human eye relies on the cornea and lens to bend incoming light rays and focus them precisely onto the retina, a light-sensitive layer at the back of the eye. This perfect focus enables us to see clearly.

However, in nearsightedness, the eyeball is either too elongated from front to back, or the cornea has an excessive curvature. This disrupts the light’s pathway, causing it to converge in front of the retina instead of directly on it. Consequently, distant objects become blurry.

Recognizing the Signs

Several indicators suggest the presence of nearsightedness:

If these symptoms are present, scheduling an eye exam with an ophthalmologist or optometrist is crucial. Early detection and correction of nearsightedness can prevent potential complications.

How Genetics May Influence Nearsightedness

Nearsightedness impacts millions globally, shaping not only the vision but also reflecting the complex workings of the eye. Research has uncovered genetic factors contributing to nearsightedness, revealing the fascinating connection between germline genetic variation and sight.

GJD2 / ACTC1 Genes

The chromosome 15q14 locus encompasses two notable genes: GJD2 and ACTC1. GJD2 encodes the Connexin36 protein, which plays a crucial role in visual signal transmission within the retina. Additionally, ACTC1, another candidate gene further away in this region, is speculated to be involved in scleral remodeling, potentially influencing myopia progression. A genetic variant in this region, SNP rs634990, was found to be associated with the risk for nearsightedness in a large international GWAS study. 

MIPEP Gene

MIPEP, which stands for mitochondrial intermediate peptide gene, is one of the genes within the 13q12.12 locus associated with high myopia. The genetic variant rs9318086, located in intron 10 of the MIPEP gene, has demonstrated a significant association with high myopia in the Han Chinese population. This association was observed in a GWAS, with the variant showing strong odds ratios (heterozygous odds ratio = 1.32, homozygous odds ratio = 1.64) and a combined p-value of 1.91 × 10^-16 across multiple cohorts.

MYP11 Region

A genetic variant in  MYP11, Myopia 11 chromosomal region, located within chromosome 4q22–q27, is implicated in high-grade myopia (HM) among the Han Chinese population. Despite lacking known coding genes, a significant SNP, rs10034228, within this region correlates with HM susceptibility. Expressive sequence tags (ESTs) are present in the MYP11 locus, potentially influencing ocular development. Additionally, a predicted gene in this region shares sequence similarities with tubulin, suggesting a role in eye development. Further research into the MYP11 region may elucidate its contribution to HM pathology and aid in developing targeted therapies.

Studying the genetic variation linked to nearsightedness gives us a better understanding of how it develops and progresses. Knowing these genetic factors can lead to new ways to prevent and manage nearsightedness, and maybe even to find treatments.

Non-Genetic Factors Influencing Nearsightedness

Nearsightedness is a common vision problem with a multifactorial origin. While the exact cause remains under investigation, research suggests a combination of genetic predisposition, as discussed, and environmental influences play a role. Let’s dive deeper into these environmental factors:

  • Near Work Activities: Extensive near work like reading, using computers, or focusing on close objects for prolonged periods has been linked to temporary nearsightedness.
  • Reduced Outdoor Time: Studies suggest spending less time outdoors, particularly in natural light, might be a contributing factor.
  • Other Factors: Other potential contributing factors include ethnicity, socioeconomic status, and certain prenatal or birth-related conditions.

It’s important to note that these factors likely interact in complex ways. Researchers are continuously investigating the causes of nearsightedness. By understanding these factors, we can potentially develop strategies to prevent or slow the progression of this condition.

Treatment Options for Sharpening Vision

Fortunately, nearsightedness is readily correctable through various methods:

  • Eyeglasses:  Corrective lenses that redirect light rays can be used to focus the light rays accurately on the retina.
  • Contact Lenses: Thin corrective lenses placed directly on the cornea provide a broader field of view than eyeglasses.
  • Refractive Surgery: In some cases, laser surgery can be used to permanently modify the cornea’s shape to enhance focus.

Living Comfortably with Nearsightedness

Nearsightedness is a manageable condition. With appropriate vision correction and regular eye checkups, individuals can experience clear vision and participate fully in life’s activities. Here are some additional tips for comfortable living with nearsightedness:

  • Practice good eye hygiene: Regularly clean eyeglasses or contact lenses per the eye doctor’s instructions.
  • Reduce screen time: Take breaks from using computers, phones, and tablets to minimize eye strain.
  • Protect your eyes from the sun: Wear sunglasses that block UVA and UVB rays to safeguard your eyes from sun damage.

By understanding nearsightedness and taking the necessary steps for correction, we can enjoy a world in a sharp focus.

About the LifeDNA Wellness Report

Understanding even complex factors like those affecting Nearsightedness becomes pivotal as we navigate the intricate pathways of our wellness. Imagine having personalized insights into your unique genetic traits related to your well-being. This is where the LifeDNA Wellness Report steps in. Going beyond generic advice, this tool provides tailored recommendations based on your genetic code, offering a holistic perspective on your well-being. By unlocking your genetic insights, you can take proactive steps towards a brighter, more informed lifestyle with the LifeDNA Wellness Report. Get it today!

Summary

  • Nearsightedness, also known as myopia, affects a significant portion of the population, causing distant objects to appear blurry while near objects remain clear.
  • The human eye relies on precise light bending to focus images onto the retina. In myopia, the eyeball’s shape disrupts this process, leading to blurry distant vision.
  • Signs of nearsightedness include difficulty seeing distant objects, squinting, headaches from eye strain, and reduced vision in low light. Early detection through an eye exam is crucial for effective management.
  • Genetic factors contribute to nearsightedness, with genes like GJD2, ACTC1, MIPEP, and the MYP11 region playing key roles. Understanding these genetic influences may lead to new prevention and treatment approaches.
  • Environmental factors such as near-work activities, reduced outdoor time, and education level also influence nearsightedness development. These factors interact with genetic predispositions in complex ways.
  • Nearsightedness can be corrected with eyeglasses, contact lenses, or refractive surgery, providing clear vision for individuals.
  • Practicing good eye hygiene, reducing screen time, and protecting eyes from the sun are essential for comfortable living with nearsightedness.
  • Understanding and managing nearsightedness empowers individuals to maintain clear vision and actively engage in daily activities.

References

  1. https://medlineplus.gov/genetics/condition/nearsightedness/
  2. https://www.aoa.org/healthy-eyes/eye-and-vision-conditions/myopia
  3. https://medlineplus.gov/ency/imagepages/19511.htm
  4. https://my.clevelandclinic.org/health/diseases/8579-myopia-nearsightedness
  5. https://link.springer.com/article/10.1007/s00439-012-1176-0
  6. https://bjo.bmj.com/content/105/6/869
  7. https://academic.oup.com/hmg/article/20/14/2861/703356
  8. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058260/#:~:text=Whether%20this%20is%20due%20to,multifactorial%20etiology%20of%20refractive%20error.
  9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7973740/

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

Earwax Type and its Genetic Significance

Aira on April 2, 2024

Earwax, also known as cerumen, plays a critical role in maintaining healthy ears. Often dismissed as an unpleasant necessity, earwax boasts fascinating variations with underlying genetic links. Understanding these offers a deeper appreciation for this essential component of a healthy auditory system.

Earwax type

Wet vs. Dry Earwax

There are two main types of earwax, each with distinct characteristics and prevalence among different ethnic groups.

  • Wet earwax, which is sticky and yellowish-brown, is more common in people of European and African descent. It acts like an adhesive, trapping dust and dirt to protect the ear canal.
  • On the other hand, dry earwax appears flaky and grayish-tan, and is more prevalent among those with East Asian ancestry. Unlike wet earwax, it’s less adhesive, making it easier for the ear’s self-cleaning mechanism to remove debris.

The Functions of Earwax

Earwax serves several crucial functions in maintaining the health of the ears:

  • Trapping dust and debris: Acting as a sticky barrier, earwax effectively traps dust, dirt, and other small particles that could otherwise irritate or harm the delicate ear canal and eardrum.
  • Preventing infections: With its innate antibacterial and antifungal properties, earwax acts as a natural defender against germs, helping to stave off infections within the ear canal.
  • Lubrication: Earwax plays a role in keeping the ear canal adequately moist and lubricated, thereby preventing dryness and minimizing the risk of irritation.
  • Protection from water: In addition to its adhesive properties, earwax also exhibits water-repelling characteristics. This helps to shield the ear canal from water intrusion, reducing the likelihood of conditions like swimmer’s ear.

Overall, earwax serves as an integral component of the body’s defense system for maintaining ear health. By keeping the ears clean, lubricated, and safeguarded against infection, earwax plays a vital role in ensuring optimal auditory well-being.

Maintaining Ear Health

Maintaining optimal ear health necessitates a delicate equilibrium in earwax production, regardless of its type. Whether wet or dry, an overabundance of earwax can result in impaction, leading to discomfort and potential hearing impairments.

In cases where ear-related issues arise, seeking guidance from a healthcare professional for appropriate ear cleaning is paramount. By prioritizing proactive ear care and promptly addressing any concerns, individuals can safeguard their hearing and overall well-being.

How Genetics May Influence Earwax Type

The genetic basis for the differences in earwax type can be attributed to variations in the ABCC11 gene, which plays a crucial role in determining the consistency and composition of earwax.

ABCC11 Gene

The type of earwax a person has, whether wet or dry, is determined by a specific gene called ABCC11. This gene has a small variation known as a single nucleotide polymorphism (SNP), that affects the earwax type, specifically at position 538 where a G can change to an A. 

If a person has two A-alleles of this SNP (AA genotype), they will have dry earwax. On the other hand, if they have one or two G-alleles(GA or GG genotype), they will have wet earwax.

This SNP isn’t the only factor; there’s also a deletion variant of 27 base pairs in a specific part of the ABCC11 gene that can influence earwax type, particularly in some people of Asian descent.

Scientists have found that the type of earwax a person has is linked to how efficiently their cells expel a molecule called cyclic guanosine monophosphate (cGMP). 

Cells with the A-allele of the SNP, which is linked to dry earwax, are less efficient at getting rid of cGMP than cells with the G-allele, which is linked to wet earwax.

Interestingly, the distribution of these earwax types follows a geographical pattern, with dry earwax more common in certain populations, like those in northeast Asia, particularly among Chinese and Koreans. This suggests that the dry earwax variant of the ABCC11 gene likely originated in northeast Asia and then spread to other parts of the world over time.

Non-Genetic Factors Influencing Earwax Type

While genetics primarily determines whether one has wet or dry earwax, there are additional factors that may contribute to earwax type, although research in these areas is still evolving:

Age

Earwax production tends to decrease naturally as individuals age. This decline could be attributed to hormonal changes or simply a slowdown in the activity of the ceruminous glands responsible for earwax secretion.

Diet

While no direct correlation has been established between specific foods and earwax type, some hypotheses suggest a potential indirect link. It’s theorized that diets rich in unhealthy fats might trigger inflammation, which could impact the consistency of earwax. However, further research is needed to validate this connection.

Ear Canal Health

Certain ear conditions such as eczema or chronic infections might potentially influence the composition of earwax. However, conclusive evidence is lacking, and more studies are necessary to confirm these associations.

Environmental Factors

There are speculations that environmental factors, such as climate, could play a role in earwax type. For instance, it’s suggested that dry earwax might be advantageous in colder regions, where it could prevent secretions from freezing. Nonetheless, these theories require thorough investigation before any definitive conclusions can be drawn.

It’s essential to recognize that while these factors may play a role, genetics overwhelmingly dictate earwax type. The influence of these additional factors on earwax composition is likely minimal compared to the dominant role of genetic predisposition. Further research is essential to unravel the complexities surrounding earwax production and its various determinants.

About the LifeDNA Wellness Report

Understanding even complex factors like those affecting Earwax Type becomes pivotal as we navigate the intricate pathways of our wellness. Imagine having personalized insights into your unique genetic traits related to your well-being. This is where the LifeDNA Wellness Report steps in. Going beyond generic advice, this tool provides tailored recommendations based on your genetic code, offering a holistic perspective on your well-being. By unlocking your genetic insights, you can take proactive steps towards a brighter, more informed lifestyle with the LifeDNA Wellness Report. Get it today!

Summary

  • Earwax, also known as cerumen, is crucial for maintaining healthy ears and exhibits fascinating variations with genetic links. Understanding these variations provides deeper insights into the significance of this essential component of auditory wellness.
  • There are two main types of earwax, wet and dry, each prevalent in different ethnic groups. Wet earwax, sticky and yellowish-brown, is common in individuals of European and African descent, while dry earwax, flaky and grayish-tan, is more prevalent among those with East Asian ancestry.
  • Earwax serves multiple critical functions in ear health, including trapping dust and debris, preventing infections, lubricating the ear canal, and protecting from water intrusion. It acts as a natural defense system, ensuring optimal auditory well-being.
  • Maintaining proper ear health requires a balance in earwax production. Excess earwax can lead to impaction and discomfort, necessitating professional ear cleaning when issues arise to prevent hearing impairments.
  • The ABCC11 gene primarily determines earwax type, with variations leading to wet or dry earwax. The distribution of these variations follows a geographical pattern, suggesting a link between genetics and earwax type prevalence among different populations.

While genetics plays a dominant role, factors such as age, diet, ear canal health, and environmental factors may also influence earwax type, albeit to a lesser extent. Further research is needed to fully understand these influences on earwax composition.

References

  1. https://my.clevelandclinic.org/health/body/24624-earwax
  2. https://www.ncbi.nlm.nih.gov/sites/books/NBK2333/#:~:text=To%20isolate%20the%20specific%20genetic,5%2Dgene%20region%20of%20DNA.
  3. https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/ear-wax
  4. https://pubmed.ncbi.nlm.nih.gov/18694532/
  5. https://www.ncbi.nlm.nih.gov/books/NBK536541/
  6. https://academic.oup.com/mbe/article/28/1/849/987325
  7. https://www.nature.com/articles/ng1733

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

Visceral Body Fat: Are You Genetically Susceptible?

Aira on April 2, 2024

What is Visceral Body Fat?

Visceral body fat or intra-abdominal or abdominal fat is stored deep within the abdominal cavity around vital organs such as the liver, pancreas, and intestines. Unlike subcutaneous fat, which lies beneath the skin, visceral fat is deeper within the body.

Visceral body fat

Image source

Visceral fat serves several vital functions, including cushioning and protecting organs, storing energy, and releasing hormones to regulate metabolism. However, excessive accumulation of visceral fat can lead to health problems.

Is Visceral Body Fat Bad for You?

Excessive visceral body fat is associated with various health risks and can harm overall health. Unlike subcutaneous fat, which primarily affects appearance, visceral fat is metabolically active and secrete hormones and inflammatory substances that can disrupt normal bodily functions.

High levels of visceral fat are associated with an increased risk of several health conditions, including type 2 diabetes, cardiovascular disease, insulin resistance, hypertension, and certain cancers. Additionally, visceral fat is closely associated with metabolic syndrome, a cluster of conditions that increase the risk of heart disease, stroke, and diabetes.

Given its proximity to vital organs, visceral fat can significantly impact health more than subcutaneous fat. Therefore, reducing visceral fat is crucial for lowering the risk of obesity-related diseases and improving overall health.

Genetics of Visceral Body Fat

Early studies on visceral body fat have highlighted its genetic origins. A 1997 paper examining the genetic susceptibility to visceral fat observed that genetic influences contribute to variations in body fat distribution. Additionally, genetic susceptibility may impact the relationship between visceral fat accumulation and metabolic alterations, with specific gene polymorphisms altering the association between visceral obesity and plasma lipoprotein-lipid levels. The findings underscore genetic factors’ significant influence on visceral adipose tissue accumulation and its association with metabolic alterations.

CRYBG1 & ATG5 

The CRYBG1 gene, or “Cryptochrome Binding Globulin 1,” encodes a protein in circadian rhythm regulation and lipid metabolism. Recent research has suggested a potential association between variations in the CRYBG1 gene and visceral body fat accumulation. Studies have indicated that specific genetic variants of CRYBG1 may be associated with increased visceral adipose tissue (VAT) deposition, particularly in individuals with obesity or metabolic disorders. 

According to a 2019 GWAS, the major allele of SNP rs803522 has a potential to increase visceral fat accumulation, consistent across both adolescents and adults.

However, the exact mechanism by which CRYBG1 influences visceral fat accumulation is still under investigation. Further research is needed to fully elucidate the role of CRYBG1 in adipose tissue biology and its implications for metabolic health.

Interestingly, the SNP rs803522 is near yet another gene,  ATG5, a gene crucial for modulating adipocyte size and macrophage polarization. ATG5 plays a vital role in autophagy, a cellular process responsible for maintaining energy balance and homeostasis by degrading damaged organelles and mobilizing intracellular nutrients, including lipids. 

Studies in mice have shown that overexpression of mouse Atg5 gene reduces body fat accumulation and prolongs lifespan. Deletion of Atg5 in adipocytes increases adiposity by altering lipid storage and burning capacities. Similar effects were observed with the deletion of Atg7, a molecular partner of ATG5. In humans, ATG5 expression is higher in obese individuals compared to lean ones and changes in response to caloric restriction or bariatric surgery.

How to Reduce Visceral Body Fat

Reducing visceral body fat involves adopting a comprehensive approach that includes dietary changes, regular physical activity, and lifestyle modifications:

  • Healthy Diet: Focus on consuming whole, nutrient-dense foods such as fruits, vegetables, lean proteins, whole grains, and healthy fats. Limit consuming sugary beverages, processed foods, refined carbohydrates, and saturated fats.
  • Regular Exercise: Engage in regular aerobic exercise, such as brisk walking, jogging, cycling, or swimming, for at least 150 minutes per week. Incorporate strength training exercises to build muscle mass and boost metabolism.
  • Manage Stress: Chronic stress can contribute to visceral fat accumulation. Practice stress-reducing techniques such as mindfulness meditation, deep breathing exercises, yoga, or tai chi.
  • Adequate Sleep: Aim for 7-9 hours of quality sleep per night, as inadequate sleep can disrupt hormonal balance and increase appetite, leading to weight gain and visceral fat accumulation.
  • Limit Alcohol Intake: Excessive alcohol consumption can contribute to visceral fat accumulation. Limit alcohol intake to moderate levels, defined as up to one drink per day for women and up to two drinks per day for men.

Does the Body Burn Visceral Fat?

The body doesn’t selectively burn visceral fat as a primary fuel source. When you engage in activities that require energy, such as exercise, the body draws upon stored fat reserves for fuel. However, the specific fat stores mobilized for energy depend on various factors, including genetics, hormone levels, and overall metabolic health.

During periods of energy expenditure, the body typically mobilizes fat stores from multiple locations, including subcutaneous and visceral fat stores, to meet energy demands. While visceral fat can contribute to overall fat loss, the body doesn’t prioritize burning visceral fat over other fat stores.

Therefore, reducing visceral fat requires a comprehensive approach focusing on overall fat loss through diet, exercise, and lifestyle modifications rather than relying on targeted fat-burning strategies.

How to Measure Visceral Body Fat

We cannot directly measure visceral body fat through traditional methods like body mass index (BMI) or skinfold calipers. 

However, several indirect methods can estimate visceral fat levels:

  • Waist Circumference: Visceral fat tends to accumulate in the abdomen. Measuring waist circumference at the navel level can indicate visceral fat accumulation. A waist circumference of more than 35 inches (88 cm) in women and 40 inches (102 cm) in men is associated with increased visceral fat and health risks.
  • Imaging Techniques: Advanced imaging techniques such as magnetic resonance imaging (MRI) and computed tomography (CT) scans can directly visualize and quantify visceral fat volume. However, these methods are expensive and typically reserved for research or clinical settings.
  • Bioelectrical Impedance Analysis (BIA): Some BIA devices claim to estimate visceral fat levels based on electrical impedance measurements. While less accurate than imaging techniques, BIA can provide a convenient and affordable estimation of visceral fat.
  • Dual-Energy X-ray Absorptiometry (DEXA): DEXA scans, primarily used for assessing bone density, can also estimate body composition, including visceral fat levels. However, like MRI and CT scans, DEXA is more commonly used in research or clinical settings due to cost and accessibility.

While these methods can estimate visceral fat levels, it’s essential to interpret results with other health indicators and consult a healthcare professional for personalized recommendations.

LifeDNA Fitness Report

Understanding your unique genetic makeup can be a game-changer in fitness and personal health. By delving into the details of your DNA, you can gain valuable insights into various aspects of your physical wellness and exercise preferences. We can leverage it to tailor a fitness regimen that aligns with your body’s intrinsic characteristics. 

Visceral body fat

The LifeDNA Fitness report has nearly 30 traits, including Visceral Fat susceptibility. Get your report here.

References

  1. https://www.healthdirect.gov.au/how-to-reduce-visceral-body-fat-hidden-fat
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3473928/
  3. https://www.nature.com/articles/0800488
  4. https://pubmed.ncbi.nlm.nih.gov/30942860/
  5. https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0279932

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports have not been evaluated by the Food and Drug Administration. The contents on our website and our reports are for informational purposes only, and are not intended to diagnose any medical condition, replace the advice of a healthcare professional, or provide any medical advice, diagnosis, or treatment. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results. The testimonials featured may have used more than one LifeDNA or LifeDNA vendors’ product or reports.

The Genetics of Body Fat Percentage

Aira on April 2, 2024

What is Body Fat Percentage?

Body fat percentage refers to the proportion of fat tissue relative to the total body weight. It is a crucial measure of overall health and fitness as it indicates the amount of fat mass compared to lean mass, which includes muscles, bones, organs, and water content. Unlike total body weight or body mass index (BMI), which only provides general estimates of body composition, body fat percentage offers a more accurate assessment of one’s health status.

Body fat percentage

What is a Healthy Body Fat Percentage

A healthy body fat percentage varies depending on age, sex, and fitness level. A healthy body fat percentage for men is around 10-20%, while for women, the range is around 20-30%. Athletes and individuals with higher muscle mass may have slightly lower body fat percentages. However, excessively low body fat percentages can pose health risks, including hormonal imbalances and impaired immune function.

Genetics of Body Fat

FTO

The fat mass and obesity-associated (FTO) gene is located on chromosome 16 in humans. It plays a crucial role in regulating body weight and metabolism. Several ariations in the FTO gene have been associated with obesity and increased BMI. This gene is involved in the control of food intake, energy expenditure, and adipose tissue development. Certain genetic variations within the FTO gene have been linked to higher body weight, increased fat mass, and a higher risk of obesity-related conditions such as type 2 diabetes and cardiovascular diseases.

A 2007 genome-wide search found that a common variant of the FTO gene (SNP rs9939609) influenced BMI, predisposing individuals to diabetes. This association was confirmed across 13 cohorts comprising 38,759 participants. Adults homozygous for the risk allele weighed approximately 3 kilograms more. It had a 1.67-fold higher likelihood of obesity compared to non-carriers. This effect was evident from age seven and led to a specific increase in fat mass. A 2021 study found another FTO SNP, rs11642015, to be specifically associated with body fat percentage. 

PLA2G6

The PLA2G6 gene, also known as Phospholipase A2 Group VI, encodes an enzyme called calcium-independent phospholipase A2 beta (iPLA2β). This enzyme belongs to the phospholipase A2 family. It plays a crucial role in cellular lipid metabolism by catalyzing the hydrolysis of phospholipids to release fatty acids and lysophospholipids.

According to a 2016 GWAS, the risk allele of the rs3761445 SNP of the PLAG6 gene can increase your susceptibility to accumulate body fat. 

SEC16B

The SEC16B gene encodes a protein that plays a role in the assembly and organization of specific vesicles responsible for transporting newly synthesized proteins from a cell organelle called the endoplasmic reticulum, to another organelle called the Golgi apparatus, for further processing and sorting. Variations in the SEC16B gene have been associated with obesity and BMI, implying its involvement in regulating energy metabolism and adiposity. 

The risk allele of rs543874 in the SEC16B gene has been found to be associated with an increased susceptibility to higher body fat percentage.

Non-genetic Factors Influencing Body Fat Percentage

Non-genetic factors play a substantial role in determining body fat percentage, influencing how fat is acquired, stored and distributed throughout the body. 

These factors encompass various aspects of lifestyle, dietary habits, physical activity levels, and environmental influences that collectively impact body composition. Here’s an expanded discussion on the non-genetic factors influencing body fat percentage:

Dietary Habits: The type and quantity of food consumed can significantly influence body fat percentage. Diets high in processed foods, refined sugars, and unhealthy fats contribute to excess calorie intake, leading to fat accumulation. Conversely, diets rich in whole grains, lean proteins, fruits, vegetables, and healthy fats support weight management and reduce body fat percentage. Mindful eating practices such as portion control and avoiding emotional eating play a crucial role in maintaining healthy body composition.

You may also like: Walkthrough of the LifeDNA Nutrition Report

Physical Activity Levels: Regular physical activity and exercise are vital for managing body fat percentage. Aerobic exercises such as jogging, cycling, and swimming increase calorie expenditure, promoting fat loss and improving overall cardiovascular health. Strength training exercises, including weightlifting and resistance training, build lean muscle mass, which boosts metabolism and enhances fat-burning capacity, even at rest. Incorporating aerobic and strength training exercises into a fitness routine yields optimal results in reducing body fat percentage.

Also read: Walkthrough of the LifeDNA Fitness Report

Lifestyle Choices: Lifestyle factors, such as sleep quality, stress management, and substance use, influence body fat accumulation. Inadequate sleep disrupts hormonal balance, leading to increased appetite, cravings for high-calorie foods, and weight gain. Chronic stress triggers the release of cortisol, a hormone associated with fat storage, particularly around the abdominal area. Limiting alcohol consumption and avoiding smoking also support efforts to reduce body fat percentage and improve overall health.

Hydration Status: Adequate hydration is essential for maintaining optimal metabolic function and supporting fat metabolism. Water is crucial in various physiological processes, including digestion, nutrient absorption, and waste elimination. Staying hydrated helps regulate appetite, prevents overeating, and supports efficient fat breakdown and utilization. Opting for water or low-calorie beverages over sugary drinks can aid in weight management and reducing body fat percentage.

Also read: A Walkthrough of the Wellness Report

Environmental Factors: Environmental factors, such as socioeconomic status, access to healthy food options, and cultural influences, can impact dietary choices and physical activity levels and influence body fat percentage. Individuals with limited access to nutritious foods may rely on inexpensive, calorie-dense options, increasing the risk of weight gain and obesity. Moreover, cultural norms and societal pressures regarding body image and food preferences may influence eating behaviors and perceptions of ideal body weight, affecting body fat percentage.

Understanding the genetic risk factors and addressing these non-genetic factors through lifestyle modifications, including adopting a balanced diet, engaging in regular exercise, managing stress effectively, prioritizing adequate sleep, and maintaining hydration, is vital to achieving and maintaining a healthy body fat percentage.

How to Calculate Body Fat Percentage

Body fat percentage can be determined using various methods, including:

  • Skinfold Calipers: This method involves measuring skinfold thickness at specific sites on the body and using those measurements to estimate body fat percentage.
  • Bioelectrical Impedance Analysis (BIA): BIA devices measure the resistance of body tissues to electrical currents, providing estimates of body fat percentage based on conductivity.
  • Dual-Energy X-ray Absorptiometry (DEXA): DEXA scans utilize X-rays to measure bone density, lean mass, and fat mass, offering highly accurate assessments for body composition.
  • Hydrostatic Weighing: This method, also known as underwater weighing, determines body density by measuring buoyancy in water, from which body fat percentage is calculated.

How to Reduce Body Fat Percentage Naturally

Reducing higher than optimal body fat percentage involves adopting a balanced approach that includes dietary modifications, regular exercise, and lifestyle changes. A combination of aerobic exercise, strength training, and flexibility exercises helps burn calories, build lean muscle mass, and improve metabolic rate. Also, focusing on a nutrient-dense diet rich in whole foods, controlling portion sizes, and staying hydrated supports healthy weight loss and fat reduction.

What Is Ideal Body Fat Percentage to See the Abs

Lower body fat percentages in the abdominal region lead to visible abs. For men, defined abs are usually visible at around 10-12% body fat, while for women, they become visible at approximately 16-20%. 

However, genetics, muscle definition, and individual body composition also influence the visibility of abs. It’s essential to prioritize overall health and fitness rather than solely focusing on achieving a specific body fat percentage for aesthetic goals.

LifeDNA Fitness Report

The LifeDNA Fitness Report offers a personalized analysis of how genetic factors can shape an individual’s fitness journey. 

The report provides insights into nearly 30 traits utilizing cutting-edge genomic science, spanning aspects such as muscle composition, metabolism, injury risk, and exercise response. 

This information can empower you to tailor your fitness routine and nutritional plans to sync with your genetic makeup.

The LifeDNA Fitness report covers Body Fat Percentage. Get your report here.

Body fat percentage

References

  1. https://www.sciencedirect.com/topics/psychology/body-fat-percentage
  2. https://www.science.org/doi/10.1126/science.1141634
  3. https://www.nature.com/articles/ncomms10495#Sec2
  4. https://www.healthline.com/health/body-fat-percentage-for-abs
  5. https://pubmed.ncbi.nlm.nih.gov/8615340/

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports have not been evaluated by the Food and Drug Administration. The contents on our website and our reports are for informational purposes only, and are not intended to diagnose any medical condition, replace the advice of a healthcare professional, or provide any medical advice, diagnosis, or treatment. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results. The testimonials featured may have used more than one LifeDNA or LifeDNA vendors’ product or reports.

Is Being Farsighted Genetic? Know Your Potential Risks

Aira on March 29, 2024

Overview of Farsightedness

What is Farsightedness?

Ever found yourself squinting to read a menu or struggling to focus on objects up close? You might be experiencing the effects of farsightedness, also known as hyperopia. Farsightedness, scientifically termed hyperopia, is a refractive error characterized by difficulty focusing on nearby objects while maintaining clear vision of distant ones and it can affect individuals of all ages.

This condition stems from an anatomical discrepancy in the eye’s optical system, where either the cornea (the eye’s outermost layer) or the eye’s length is insufficiently curved or shortened, causing light rays to converge behind the retina rather than directly on it. 

According to scientific data, farsightedness affects approximately 5-10% of the global population, making it a prevalent visual impairment. Symptoms of hyperopia may include eyestrain, headaches, and blurred vision when performing tasks requiring close focus, such as reading or computer work. 

While hyperopia is often hereditary, other contributing factors may include age-related changes in the eye’s structure. Understanding the underlying mechanisms of farsightedness is crucial for both diagnosis and treatment.

Is Being Farsighted Genetic

Why Does the Eye Develop Farsightedness?

Farsightedness occurs when light entering the eye focuses behind the retina instead of directly on it, leading to difficulty in focusing on close-up objects. This condition arises from an anatomical irregularity within the eye’s optical system. 

In a normal eye, light passes through the cornea (the eye’s clear front surface) and the lens, converging precisely on the retina, where images are formed and sent to the brain for interpretation. However, in hyperopic eyes, the cornea is too flat or the eyeball is too short, causing the focal point to fall behind the retina.

Several factors contribute to the development of hyperopia. Genetics plays a significant role, as individuals with a family history of farsightedness are more likely to experience it themselves. Additionally, age-related changes in the eye’s structure can exacerbate hyperopia, particularly as the lens loses its flexibility, making it harder to focus on close objects. 

Understanding the mechanisms behind hyperopia is crucial for effective treatment. Corrective lenses, such as glasses or contact lenses, adjust the way light enters the eye, compensating for the refractive error and allowing for clearer vision. Surgical interventions reshape the cornea to improve its focusing ability, offering a more permanent solution for some individuals.

Overall, while the precise cause of hyperopia may vary from person to person, a combination of genetic predisposition and age-related changes in the eye’s structure underlies its development. Through advancements in optometry and ophthalmology, various treatment options are available to address farsightedness and enhance visual acuity.

What Can Affect Your Risks for Farsightedness?

Genetic factors play a significant role in the development of farsightedness, or hyperopia. Studies suggest that individuals with a family history of hyperopia are more likely to experience this refractive error themselves. 

By examining specific genetic markers associated with eye structure and function, researchers aim to uncover the underlying genetic mechanisms contributing to farsightedness. Understanding these genetic factors is crucial for identifying individuals at risk and developing targeted interventions for optimal vision health.

Genetic Factors

A 2014 study conducted a comprehensive analysis of genetic factors influencing myopia and hyperopia, revealing significant associations at specific genetic locations.

Notably, chromosomes 8q12 and 15q14 emerged as regions linked to refractive errors and especially hyperopia. An intergenic SNP, rs10089517 on chromosome 8q12, showed a significant association with hyperopia, as well as a locus on chromosome 15q14 with a SNP rs524952.

A more recent, 2021 study aimed to investigate whether the same genetic variants contribute to susceptibility to low myopia (LM), high myopia (HM), and hyperopia, which is crucial for understanding refractive error genetics and clinical implications. In this study, researchers analyzed data from UK Biobank participants aged 40 to 69 of European and Asian ancestry.

Four genome-wide association studies (GWAS) were conducted, comparing HM, LM, and hyperopia to emmetropia (normal vision). Polygenic risk scores were generated and evaluated in independent replication samples. Results showed that many genetic risk variants were shared across HM, LM, and hyperopia, indicating a polygenic contribution to refractive error.

Genetic variants near genes like PRSS56 (rs2741297), and LAMA2 (rs12193446), among others, were found to be associated with hyperopia. PRSS56 gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development.

LAMA2 encodes for laminin, an extracellular protein that is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development.

Both of these studies provide valuable insights into the genetic basis of refractive errors across diverse populations, supporting the importance of polygenic factors in shaping vision outcomes. Treatments targeting genes and the common genetic variants associated with refractive error could benefit individuals with refractive errors.

Environmental Factors

While genetics play a significant role in the development of farsightedness, environmental factors can also influence an individual’s likelihood of experiencing hyperopia. Understanding these external influences is crucial for comprehensive vision care. Here are several environmental factors supported by scientific research that may impact the onset and progression of farsightedness.

  1. Near-Work Activities: Prolonged engagement in close-up tasks, such as reading, writing, or using digital devices, has been linked to an increased risk of developing hyperopia. The constant accommodation required to focus on near objects may contribute to changes in the eye’s structure over time, leading to refractive errors.
  2. Educational Environment: Studies suggest that individuals with higher levels of education may have a greater prevalence of farsightedness. This association is partly attributed to increased exposure to near-work activities during schooling years, emphasizing the importance of promoting healthy visual habits in educational settings.
  3. Outdoor Time: Spending time outdoors, particularly during childhood, has been associated with a reduced risk of developing farsightedness. Natural outdoor lighting and the distant viewing inherent in outdoor environments may help in the development and maintenance of optimal visual acuity, offering protective benefits against hyperopia.
  4. Urbanization and Environmental Pollution: Urban environments characterized by high pollution levels and limited green spaces have been correlated with an increased prevalence of refractive errors, including hyperopia. Air pollutants and indoor toxins may contribute to oxidative stress and inflammation within the eye, potentially impacting visual development.
  5. Nutritional Factors: Adequate nutrition, particularly during critical periods of ocular development, plays a vital role in maintaining healthy vision. Studies suggest that deficiencies in certain nutrients, such as vitamin D, vitamin A, and omega-3 fatty acids, may be associated with an increased risk of farsightedness. Conversely, a balanced diet rich in fruits, vegetables, and essential nutrients may offer protective benefits against refractive errors.
  6. Parental Socioeconomic Status: Socioeconomic factors, including parental education level and household income, have been linked to the prevalence of farsightedness among children. Higher socioeconomic status is often associated with access to better healthcare services, nutritional resources, and educational opportunities, all of which can influence visual development and eye health outcomes.

Understanding the interplay between genetic predisposition and environmental factors is essential for implementing effective preventive measures and promoting optimal eye health. 

By addressing modifiable environmental influences, such as promoting outdoor activities, encouraging healthy visual habits, and ensuring access to nutritious foods, we can work towards reducing the burden of farsightedness and improving overall vision outcomes for individuals worldwide.

What are the Symptoms of Farsightedness?

Farsightedness, or hyperopia, manifests in various symptoms that can impact daily activities and overall quality of life. While the severity of symptoms may vary among individuals, common signs of farsightedness include:

  • Blurred Vision: Farsighted individuals often experience blurred vision when attempting to focus on nearby objects, such as reading or using digital devices. This blurriness results from light rays converging behind the retina rather than directly on it.
  • Eyestrain: Straining to see objects up close is a hallmark symptom of farsightedness. Individuals may notice discomfort or fatigue in the eyes, particularly after prolonged periods of near-work.
  • Headaches: Farsightedness can cause headaches, especially during activities that require sustained focus on close-up tasks. The extra effort required to overcome refractive errors can lead to tension headaches or migraines.
  • Difficulty with Near-Tasks: Tasks that demand precise near vision, such as reading small print or threading a needle, may become increasingly challenging for individuals with farsightedness. This difficulty arises from the eye’s inability to focus properly on nearby objects.
  • Eye Fatigue: Farsighted individuals may experience eye fatigue or discomfort, particularly after extended periods of reading or performing close-up work. This fatigue results from the constant strain placed on the eye muscles to compensate for refractive errors.
  • Squinting: Squinting is an instinct that individuals with farsightedness may employ to temporarily improve vision by narrowing the eye’s aperture and reducing the amount of unfocused light entering the eye.

Recognizing these symptoms is essential for prompt diagnosis and appropriate management of farsightedness. If you experience any of these signs, schedule an eye examination with an optometrist or ophthalmologist to assess your vision and explore treatment options tailored to your needs.

Is it Normal for Menstrual Cycles to Change?

Yes, it is normal for menstrual cycles to change over time and to vary from month to month. Scientific research indicates that fluctuations in menstrual cycle length and pattern are common occurrences in many women’s reproductive lives.

Several factors can contribute to changes in menstrual cycles, including hormonal fluctuations, stress levels, lifestyle habits, age, and underlying health conditions. For example, during adolescence and perimenopause, hormonal shifts can cause irregular cycles as the body adjusts to changes in hormone levels. Additionally, fluctuations in weight, exercise habits, and stress levels can impact the regularity of menstrual cycles.

While occasional changes in menstrual cycles are generally normal, significant or persistent alterations may warrant further evaluation by a healthcare provider. Irregularities such as unusually short or long cycles, missed periods, or excessive bleeding could be indicative of underlying health concerns that require medical attention.

Understanding that menstrual cycles can change over time helps individuals better navigate their reproductive health journey. By monitoring and tracking menstrual cycles and seeking medical guidance when needed, individuals can maintain optimal reproductive health and overall well-being.

Is Farsightedness a Disability?

Hyperopia is generally not considered a disability in the traditional sense. While this condition can significantly impact daily activities such as reading or computer work, it typically does not cause severe impairment to overall functioning.

However, in certain cases where hyperopia is accompanied by other vision disorders or underlying medical conditions, such as amblyopia (lazy eye) or strabismus (eye misalignment), it may be classified as a visual impairment and potentially qualify for disability accommodations. 

Additionally, individuals with high degrees of hyperopia that cannot be adequately corrected with glasses or contact lenses may face limitations in certain professions or activities requiring precise near vision, such as microscopy or fine detailed work.

Whether farsightedness is considered a disability depends on the severity of the condition, its impact on daily functioning, and individual circumstances. With appropriate corrective measures and accommodations, many individuals with hyperopia can effectively manage their condition and lead fulfilling lives.

Is Farsightedness the Same as Presbyopia?

Hyperopia and presbyopia are two distinct vision conditions, although they share similarities in their effects on near vision. Farsightedness occurs when light entering the eye focuses behind the retina instead of directly on it, causing difficulty in focusing on close-up objects. This condition typically arises due to an anatomical irregularity in the eye’s optical system, such as a flat cornea or a shortened eyeball.

Presbyopia, on the other hand, is an age-related condition that affects near vision, typically beginning around the age of 40. It occurs when the natural lens of the eye gradually loses its flexibility, making it harder to focus on close-up objects. Unlike farsightedness, which can affect individuals of all ages, presbyopia is specifically linked to aging and is a natural part of the aging process.

While both hyperopia and presbyopia can cause difficulty with near vision, they have different underlying causes and onset mechanisms. Farsightedness (hyperopia) is primarily a refractive error, whereas presbyopia is a result of age-related changes in the eye’s structure. Understanding these distinctions is crucial for accurate diagnosis and appropriate management of these vision conditions.

Is Farsightedness Permanent?

Farsightedness, or hyperopia, is typically not a permanent condition, as it can be effectively managed and corrected through various treatment options. Corrective lenses, such as glasses or contact lenses, are commonly prescribed to individuals with hyperopia to adjust the way light enters the eye, compensating for the refractive error and improving visual acuity.

Additionally, surgical interventions like LASIK (Laser-Assisted In Situ Keratomileusis) can reshape the cornea, correcting refractive errors and reducing or eliminating the need for corrective lenses in some cases. However, it’s important to note that the effectiveness of surgical procedures may vary depending on individual factors such as the degree of hyperopia and overall eye health.

While farsightedness can be effectively managed and corrected, it may persist or worsen over time, particularly as individuals age and experience changes in their eyes’ structure. Regular eye exams are essential for monitoring changes in vision and ensuring appropriate management strategies are implemented to maintain optimal visual acuity. 

Overall, while farsightedness may not be permanent, ongoing management and care are necessary to address this common refractive error effectively.

Different Treatments for Farsightedness

Effective management of farsightedness, or hyperopia, involves various treatment options aimed at improving visual acuity and quality of life. Here, we explore several scientifically validated treatments for farsightedness, each offering unique benefits and considerations.

Eyeglasses

Prescription eyeglasses are a common and highly effective treatment for farsightedness. Concave lenses are prescribed to correct hyperopia by bending light rays inward, allowing them to focus directly on the retina. Eyeglasses offer a simple and non-invasive solution for individuals with hyperopia, providing clear vision for both near and distant objects.

Contact Lenses

Contact lenses are another popular option for correcting farsightedness. Like eyeglasses, contact lenses use convex lenses to adjust the way light enters the eye, compensating for the refractive error. Contact lenses offer advantages such as improved peripheral vision and freedom from glasses, although proper care and hygiene are essential to minimize the risk of eye infections.

Refractive Surgery

Refractive surgeries, such as LASIK (Laser-Assisted In Situ Keratomileusis) and PRK (Photorefractive Keratectomy), offer a more permanent solution for correcting farsightedness. These procedures reshape the cornea, altering its curvature to improve the eye’s focusing ability. Refractive surgery can significantly reduce or eliminate the need for corrective lenses, providing long-term visual clarity for many individuals with hyperopia.

Refractive Lens Exchange (RLE)

RLE is a surgical procedure commonly used to treat farsightedness, particularly in individuals with significant refractive errors or age-related changes in the lens. During RLE, the eye’s natural lens is replaced with an artificial intraocular lens (IOL) that corrects the refractive error. RLE offers predictable and stable vision outcomes, making it a viable option for individuals seeking permanent correction of hyperopia.

Orthokeratology

Orthokeratology, or ortho-k, involves the use of specialized rigid gas-permeable contact lenses worn overnight to temporarily reshape the cornea.

This non-surgical approach offers temporary correction of farsightedness, providing clear vision throughout the day without the need for corrective lenses. Ortho-k is particularly popular among individuals seeking alternative treatment options or those ineligible for refractive surgery.

By understanding the diverse range of treatment options available for farsightedness, individuals can work closely with their eye care professionals to choose the most suitable approach based on their unique needs, lifestyle, and preferences. 

Regular eye exams are essential for monitoring vision changes and ensuring optimal management of hyperopia for long-term eye health and visual well-being.

LifeDNA’s Farsightedness Trait Report

Unlock the secrets to a healthier, more vibrant life with LifeDNA’s Farsightedness Trait Report. Our scientifically-backed Wellness Report delves into your unique genetic profile, providing personalized insights into your predisposition to farsightedness and other wellness factors.

Understanding your genetic makeup empowers you to make informed decisions about your health, ensuring that you’re equipped with the knowledge to optimize your well-being.

But that’s just the beginning. With LifeDNA, you can access a comprehensive suite of trait reports, including our Diet and DNA Damage, Longevity, and Smoking Behavior & Nicotine Dependence Trait Reports. Explore the full spectrum of your genetic predispositions, from nutrition and fitness to sleep patterns and cognitive traits, with over 200 trait reports available across seven main categories.

Whether you’re looking to improve your vision, fine-tune your diet, or uncover the secrets to a longer, healthier life, LifeDNA has you covered. Take the first step on your wellness journey today and unlock the power of your genetic insights. Join LifeDNA and embark on a personalized path to optimal health and vitality.

Summary

  • Farsightedness, or hyperopia, is a common refractive error characterized by difficulty in focusing on nearby objects while maintaining a clear vision of distant ones.
  • Anatomical discrepancies in the eye’s optical system, such as a flat cornea or a shortened eyeball, cause light rays to converge behind the retina instead of directly on it, leading to hyperopia.
  • Hyperopia affects approximately 5-10% of the global population and can cause symptoms like eyestrain, headaches, and blurred vision when performing tasks requiring close focus.
  • While genetics play a significant role in hyperopia for all ages, age-related changes in the eye’s structure can also contribute to its development.
  • Research suggests that genetic risk variants are shared across high myopia, low myopia, and hyperopia, indicating a polygenic contribution to refractive error.
  • Environmental factors such as near-work activities, educational environment, outdoor time, urbanization, nutritional factors, and parental socioeconomic status can influence the onset and progression of hyperopia.
  • Symptoms of hyperopia include blurred vision, eyestrain, headaches, difficulty with near tasks, eye fatigue, and squinting.
  • While hyperopia is not typically considered a disability, individuals with severe hyperopia may face limitations in certain professions or activities requiring precise near vision.
  • Hyperopia should not be confused with presbyopia, an age-related condition affecting near vision due to changes in the eye’s natural lens.
  • Hyperopia can be effectively managed and corrected through treatments like eyeglasses, contact lenses, refractive surgery, refractive lens exchange, and orthokeratology.
  • Regular eye exams are essential for monitoring changes in vision and ensuring appropriate management strategies for hyperopia.

References

  1. https://www.mayoclinic.org/diseases-conditions/farsightedness/symptoms-causes/syc-20372495#:~:text=Farsightedness%20(hyperopia)%20is%20a%20common,objects%20nearby%20may%20be%20blurry.
  2. https://www.nei.nih.gov/sites/default/files/health-pdfs/Farsightedness.pdf
  3. https://www.aoa.org/healthy-eyes/eye-and-vision-conditions/hyperopia?sso=y
  4. https://www.ssa.gov/pubs/EN-05-10052.pdf
  5. https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0107110
  6. https://jamanetwork.com/journals/jamaophthalmology/fullarticle/2778382
  7. https://www.mayoclinic.org/diseases-conditions/lazy-eye/symptoms-causes/syc-20352391
  8. https://www.hopkinsmedicine.org/health/conditions-and-diseases/strabismus#:~:text=Strabismus%20%E2%80%94%20also%20known%20as%20hypertropia,the%20other%20eye%20remains%20focused.
  9. https://www.mayoclinic.org/diseases-conditions/presbyopia/symptoms-causes/syc-20363328#:~:text=Presbyopia%20is%20the%20gradual%20loss,worsen%20until%20around%20age%2065.
  10. https://www.mayoclinic.org/tests-procedures/lasik-eye-surgery/about/pac-20384774
  11. https://www.ncbi.nlm.nih.gov/books/NBK549887/#:~:text=Photorefractive%20keratectomy%20(PRK)%20is%20a,may%20be%20the%20preferred%20option.
  12. https://www.eye.com.ph/blog/lens-blog/rle/
  13. https://www.aao.org/eye-health/glasses-contacts/what-is-orthokeratology#:~:text=Orthokeratology%2C%20or%20ortho%2Dk%2C,often%20compared%20to%20dental%20braces.

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports have not been evaluated by the Food and Drug Administration. The contents on our website and our reports are for informational purposes only, and are not intended to diagnose any medical condition, replace the advice of a healthcare professional, or provide any medical advice, diagnosis, or treatment. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results. The testimonials featured may have used more than one LifeDNA or LifeDNA vendors’ product or reports.

Understanding The APOE Gene Part I: The Basics

Aira on March 29, 2024

Disclaimer: This article is meant for informational purposes only. LifeDNA does not offer clinical analyses nor diagnoses for any conditions discussed herein or otherwise.

A few genes and their variants stand out for their profound impact on our health in the intricate web of human genetics.  The APOE (apolipoprotein E) gene is one such gene, commanding attention for its significant role in lipid metabolism and its association with various conditions. 

The APOE gene is located on chromosome 19. It is best known for its involvement in the body’s ability to process fats and for influencing conditions ranging from cardiovascular disease, affecting the functioning of the heart, to Alzheimer’s disease. The importance of the APOE gene in medical research and personalized healthcare continues to grow as we uncover more about its diverse roles in the body. 

This article delves into the APOE gene, exploring its biological functions, genetic variations, and the implications of these variations on health and disease. By understanding the APOE gene, we can better grasp the complexities of genetic influence on health and pave the way for more personalized medical interventions.

APOE gene

The Biology of APOE

The APOE gene provides instructions for making a protein called apolipoprotein E. This protein is crucial for the normal catabolism (breakdown) of triglyceride-rich lipoprotein constituents. 

In simpler terms, it plays a vital role in metabolizing and transporting fats and cholesterol throughout the body, aiding in the clearance of these substances from the bloodstream. 

Apolipoprotein E is a prominent component of very low-density lipoproteins (VLDL), which are precursors to the more well-known low-density lipoprotein (LDL), often referred to as “bad cholesterol.”

Read more: How Genes Influence Cholesterol Levels.

Beyond its role in lipid metabolism, APOE plays vital roles in several other biological processes, including immune regulation and neural repair. Its presence in different tissues and organs, notably the liver and brain, underscores its multifaceted role in maintaining health and its potential implications in disease processes.

Genetic Variations of APOE and Their Significance

The APOE gene exists in three principal allele forms: ε2, ε3, and ε4, creating a genetic variant that influences the protein’s structure and function. These alleles determine the individual’s APOE genotype, which can be combinations of the three alleles (e.g., ε3/ε3, ε3/ε4, ε4/ε4).

  • ε2 allele is the least common. It is associated with a decreased risk of Alzheimer’s but an increased risk of type III hyperlipoproteinemia (a condition that can lead to cardiovascular disease).
  • ε3 allele is the most common, considered the “neutral” allele, with no increased risk of Alzheimer’s or heart disease.
  • ε4 allele is associated with an increased risk of Alzheimer’s disease and cardiovascular diseases. Carrying even one ε4 allele increases the risk, and having two ε4 alleles further elevates this risk.

The distribution of these alleles varies widely across different populations and ethnic groups, affecting the prevalence of related diseases. Understanding one’s APOE genotype can offer insights into the potential health risks and the preventive measures that may be most effective.We will cover the population-specific influence of APOE in Part II.

APOE and Its Link to Diseases

The APOE gene’s association with various diseases, most notably Alzheimer’s disease and cardiovascular disease, underscores its importance in human health and disease. The link between APOE alleles and these conditions offers a window into the genetic underpinnings of disease risk and progression.

Alzheimer’s Disease (AD)

The ε4 allele of the APOE gene is the strongest-known genetic risk factor for late-onset Alzheimer’s disease, expressed in more than half of the affected patients. Individuals carrying one ε4 allele have an increased risk of developing the disease, and the risk is even higher for those with two ε4 alleles. The presence of the ε4 allele is associated with earlier onset of AD symptoms and a more rapid progression of the disease. 

In a study examining 179 senile dementia of the Alzheimer type (SDAT) patients, 154 controls, and 167 subjects with age-related memory complaints (ARMC), it was found that the APOE-ε4 allele frequency was notably higher in SDAT patients (27%) compared to controls (10%) and stable ARMC subjects (15%). Furthermore, among ARMC subjects, those who carried the ε4 allele had a three-fold increased risk of developing dementia compared to non-carriers. Additionally, older age at the onset of memory decline and lower initial scores were also associated with an increased risk of dementia in ARMC subjects.

Two years ago popular Marvel star Chris Hemsworth discovered that he had two copies of the APOE4 gene, inherited from both his mother and father. You can read about his journey of discovery here.

Conversely, the ε2 allele may offer some protection against AD, although its protective mechanism is not fully understood.

A 2020 study revealed significant protective effects of ε2 against AD-related pathologies such as amyloid plaques and Braak stage compared to e3/e3 carriers and e4 carriers. The study also noted that, unfortunately, in ε2/ε4 carriers, the risk for AD pathologies resembles that of ε4 carriers rather than ε2 carriers. 

Cardiovascular Disease (CVD)

An early study suggested that the presence of ε2 or ε4 alleles in men is associated with a heightened risk of CVD, emphasizing the potential utility of genotype information in identifying individuals prone to CVD events.

In addition to the increased risk for AD, the APOE ε4 allele is also associated with an increased risk of cardiovascular disease. This risk is partly due to the allele’s effect on lipid metabolism, leading to higher LDL cholesterol levels and potentially a significant buildup of plaques in the arteries. 

The ε2 allele, despite its protective role against Alzheimer’s, can predispose individuals to type III hyperlipoproteinemia, a condition that elevates triglyceride levels and may increase the risk of heart disease.

Beyond these well-established links, research has suggested potential associations between APOE alleles and other conditions, including diabetes, inflammatory diseases, and age-related macular degeneration, highlighting the gene’s broad impact on health.

Implications for Personalized Medicine

Understanding an individual’s APOE genotype has significant implications for personalized medicine, offering insights that can guide preventive health strategies, lifestyle adjustments, and potentially tailored medical treatments.

  • Preventive Health Strategies: Knowledge of one’s APOE status can inform personalized approaches to disease prevention. For instance, individuals with the ε4 allele might benefit from early interventions to manage cholesterol levels and reduce Alzheimer’s risk, such as regular physical activity, a heart-healthy diet, and cognitive training exercises.
  • Lifestyle Adjustments: Awareness of APOE-related risks can motivate lifestyle changes to mitigate these risks. It could include dietary modifications, increased emphasis on cardiovascular exercise, and monitoring heart health and cognitive function regularly.
  • Tailored Medical Treatments: In the future, the APOE genotype could inform the development and application of targeted therapies, especially for conditions like Alzheimer’s, where we can customize preventive and therapeutic strategies based on genetic risk factors.

Future Directions in APOE Research

Ongoing research into the APOE gene continues to uncover its complex roles in health and disease. Future studies aim to elucidate mechanisms by which APOE alleles influence disease risk and progression to develop more effective treatments. Research also explores the gene’s potential roles in other conditions, expanding our understanding of its impact on human health.

Takeaway

The APOE gene’s significance extends far beyond its role in lipid metabolism, with its variants influencing the risk and progression of Alzheimer’s disease, cardiovascular disease, and potentially other conditions. Understanding the genetic variations of APOE and their associations with diseases offers valuable insights for personalized medicine, highlighting the importance of genetics in health and disease management. 

As research progresses, the potential for targeted interventions based on APOE status holds promise for improving outcomes for individuals with increased genetic risks. Embracing the advancements in genetic research can empower individuals and healthcare providers to make informed decisions, leading to better health and well-being.

Other Gene-Related Articles Covered By LifeDNA

MTHFR

The MTHFR gene, short for Methylenetetrahydrofolate Reductase, is crucial in the body’s metabolic processes. This gene produces the MTHFR enzyme, which plays a vital role in processing amino acids, the building blocks of all proteins. 

Read our complete review of this gene here: Decoding The MTHFR Gene & What It Means For Your Wellness

COMT

The COMT enzyme, encoded by the COMT gene, is particularly active in the prefrontal cortex, a brain region associated with memory, decision-making, and emotional regulation. Genetic variations in the COMT gene can affect the enzyme’s activity level, influencing how quickly catecholamines are metabolized. This can directly impact neurological and psychological processes.

Read our complete review of this gene here: COMT Gene Insights: Navigating Its Influence On Wellness

References

  1. https://medlineplus.gov/genetics/gene/apoe/
  2. https://www.sciencedirect.com/science/article/abs/pii/S1552526014024996
  3. https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1468-1331.1996.tb00266.x
  4. https://link.springer.com/article/10.1186/s13024-022-00574-4
  5. https://www.nature.com/articles/s41467-020-18198-x
  6. https://www.sciencedirect.com/science/article/abs/pii/S0021915000005700
  7. https://link.springer.com/article/10.1186/s13024-022-00574-4

Alternative to Affinity DNA: Why LifeDNA?

LifeDNA has emerged as a prominent option for analyzing existing DNA data from 23andMe and many other raw data sources in addition to offering our own proprietary sample collection kits. Our reports feature a combination of unique offerings and a commitment to personalized wellness. 

We offer a basic DNA raw data analysis package to kickstart your journey. Users with raw data from 23andMe, AncestryDNA, etc., can access 194+ traits across interest areas such as Nutrition, Wellness, Vitamins and Supplements, Personality, Fitness, Sleep, Methylation, and Skincare.

Further, if you do not have raw DNA data, such as from 23andMe, LifeDNA provides that too. Start your personalized wellness journey with LifeDNA’s state-of-the-art DNA kits here.

Here is why many regard LifeDNA as the best option for making the most of your 23andMe, AncestryDNA, and other raw data:

  • Holistic Approach to Wellness: Unlike many other platforms that focus strictly on health-related risks or ancestry, LifeDNA adopts a holistic approach. We analyze genetic data to offer personalized optimizations for nutrition (including a customized grocery list!), skin care, vitamins & supplements, wellness, personality & cognition, and fitness. This range lets users get a complete picture of their wellness needs based on their DNA.
  • Product Recommendations: We go beyond just providing insights. We offer specific product recommendations, skincare ingredients, or supplements tailored to an individual’s genetic profile. It makes our service actionable, allowing users to make immediate changes based on their results.
  • Data Security: At LifeDNA, we place a high emphasis on protecting user data. Our commitment to privacy ensures that users can trust the platform with their sensitive genetic information.
  • User-Friendly Reports: LifeDNA reports are easy to interpret. Our reports are designed to be accessible to the layperson without compromising on the depth and accuracy of the information.
  • Continual Updates: As genetic research evolves, so does LifeDNA’s platform. Users can expect their reports and insights to be updated with the latest scientific findings.
  • Dedicated Research and Development: At LifeDNA, we invest in research to continually refine our algorithms, ensuring that the insights provided are based on cutting-edge science.
  • Educational Resources: LifeDNA also provides ample resources for users to understand their genetic makeup better. This education-first approach demystifies the complex world of genetics, making it approachable and actionable for everyone.
  • Scientific rigor: To create an unmatched commitment to scientific rigor, LifeDNA partners with CLIA-certified, CAP-accredited, and HIPAA-compliant laboratories.

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

Cortisol Levels and Genetics

Aira on March 26, 2024

Understanding Cortisol

Cortisol is a steroid hormone, also called a glucocorticoid, produced by your adrenal glands. These glands sit on top of your kidneys. It is often called the “stress hormone” as it plays a vital role in our body’s fight-or-flight response. Cortisol has numerous important functions, but keeping us alert and energized during stressful situations is a key one.

Cortisol levels

Cortisol's Daily Rhythm

Cortisol operates on a circadian rhythm called the diurnal rhythm. This rhythm governs the fluctuations of cortisol levels throughout the day, which regulates various physiological processes.

In the early hours of the morning, cortisol levels peak, contributing to the wakefulness and alertness we experience upon rising. This surge in cortisol helps mobilize energy reserves and initiates essential bodily functions to prepare us for the day ahead. As the day progresses, cortisol levels gradually decline, reflecting the body’s diminishing need for heightened alertness.

By midday, cortisol levels begin to plateau, more subtly influencing our physiology. During this time, cortisol continues to modulate our response to stressors, aiding in the regulation of blood pressure, metabolism, and immune function.

As evening approaches, cortisol levels taper off further, signaling the body to wind down and prepare for rest. By late evening, cortisol reaches its lowest point, facilitating relaxation and promoting sleep onset. This decrease in cortisol allows other hormones, such as melatonin, to take precedence, further aiding in the transition to restorative sleep.

Understanding the diurnal rhythm of cortisol is crucial for maintaining optimal well-being. By aligning our activities with the natural fluctuations of cortisol, we can optimize our energy levels, enhance our resilience to stress, and promote overall balance in our daily lives.

When Cortisol Levels Get Out of Balance

Chronically high cortisol levels can wreak havoc on our wellness. Chronic stress, certain medical conditions, and even some medications can contribute to this imbalance. Here’s what you need to know about abnormal cortisol levels:

How Genetics May Influence Cortisol Levels

Genetic factors are crucial in shaping various physiological processes within the human body, including regulating cortisol levels. Understanding the genetic determinants of cortisol regulation sheds light on individual differences in stress response and holds implications for wellness outcomes and susceptibility to stress-related conditions.

Interestingly, the chromosome 14 region with several genes encoding for SERPIN gene family members has emerged as a significant factor in determining blood cortisol levels in many studies, such as a GWAS meta-analysis published in 2021.  Serpins (serine protease inhibitors or classified inhibitor family I4) are the largest and most broadly distributed superfamily of protease inhibitors. Serpin-like genes have been identified in animals, poxviruses, plants, bacteria, and archaea, and over 1,500 members of this family have been identified to date and they slow broad functional diversity. 

SERPINA6

SERPINA6, located on chromosome 14, encodes for corticosteroid-binding globulin (CBG), the primary carrier protein for cortisol in plasma. CBG plays a crucial role in regulating the bioavailability and transport of cortisol.

Variations within the SERPINA6 gene have been associated with alterations in CBG concentrations and activity, impacting cortisol binding and release dynamics. Notably, common single nucleotide polymorphisms (SNPs) near the SERPINA6 promoter such as rs7146221, have been identified through genome-wide association studies (GWAS) as contributors to plasma cortisol levels.

These findings highlight the significance of SERPINA6 in modulating cortisol homeostasis and its potential implications in stress-related disorders and other cortisol-associated diseases.

SERPINA1

Situated adjacent to SERPINA6 on chromosome 14, SERPINA1 encodes for α1-antitrypsin, a protease inhibitor with diverse physiological functions, including inhibiting enzymes in inflammatory processes. 

Of particular relevance to cortisol regulation, α1-antitrypsin also plays a role in modulating the activity of corticosteroid-binding globulin (CBG). By inhibiting the cleavage of the reactive center loop of CBG, α1-antitrypsin regulates the release of cortisol from its bound form.

Mutations or common genetic variations, such as rs1243171, within or close to SERPINA1 can affect its interaction with CBG, influencing cortisol availability and plasma levels. Through genetic studies, common variants and rare missense mutations within SERPINA1 have been identified as contributors to cortisol-related traits and diseases, underscoring the importance of this gene in cortisol metabolism and its potential implications for wellness and disease.

In conclusion, genetic factors, such as genetic variation affecting SERPINA1, 2, 6, and 10 genes,  exert a significant influence on cortisol regulation, impacting individual responses to stress and vulnerability to stress-related disorders. These insights not only deepen our understanding of stress physiology but also hold promise for personalized interventions targeting stress-related conditions.

Non-Genetic Factors Influencing Cortisol Levels

Normal cortisol levels follow a circadian rhythm, with levels highest in the morning and tapering off throughout the day.  However, several factors can influence cortisol levels:

  • Stress: This is the most well-known factor that can influence cortisol levels. When you experience stress, your body releases cortisol to help you cope. Chronic stress can lead to elevated cortisol levels, which can have several negative health consequences.
  • Diet: Studies have shown that a diet high in processed foods, sugar, and unhealthy fats can lead to elevated cortisol levels. Conversely, a diet rich in fruits, vegetables, and whole grains can help to keep cortisol levels in check.
  • Sleep: Lack of sleep can disrupt the normal cortisol rhythm, leading to elevated cortisol levels. Aim for 7-8 hours of sleep each night to help regulate your cortisol levels.
  • Exercise: Regular exercise can help to reduce stress and improve sleep quality, both of which can help to keep cortisol levels in check. However, excessive exercise can also lead to elevated cortisol levels.
  • Caffeine: When people consume caffeine, a common stimulant found in coffee and other drinks, it can boost their cortisol levels, especially if they’re not accustomed to its effects.
  • Alcohol: Alcohol consumption disrupts the body’s usual cortisol rhythm, leading to irregular fluctuations in cortisol levels.
  • Smoking: Smoking is known to raise cortisol levels in individuals, exacerbating their body’s stress response.
  • Medications: Certain medications, such as corticosteroids, have the potential to raise cortisol levels as a side effect, prompting the need for careful monitoring of cortisol levels.
  • Medical Conditions: Diseases like Cushing’s syndrome and Addison’s disease have a significant impact on how the body regulates cortisol, causing abnormal patterns of cortisol secretion.

How to Optimize Cortisol Levels

Here are some ways you can optimize your cortisol levels:

Diet

  • Eat a balanced, whole-food diet rich in fruits, vegetables, and whole grains. These foods provide sustained energy and help regulate blood sugar levels, reducing stress on the body.
  • Limit processed foods, sugary drinks, and unhealthy fats. These can cause blood sugar spikes and crashes, contributing to stress and potentially raising cortisol levels.
  • Consider incorporating foods rich in omega-3 fatty acids, such as fatty fish, flax, and chia seeds. Omega-3s have anti-inflammatory properties and may help manage stress.

Sleep

  • Prioritize getting enough sleep, aiming for 7-8 hours per night. A consistent sleep schedule helps regulate your body’s natural cortisol rhythm.
  • Establish a relaxing bedtime routine to wind down before sleep. This could include taking a warm bath, reading a book, or practicing relaxation techniques like deep breathing or meditation.
  • Create a sleep-conducive environment. Ensure your bedroom is dark, quiet, and cool. Limit screen time before bed as the blue light emitted from electronic devices can interfere with sleep.

Stress Management

  • Practice relaxation techniques such as deep breathing, yoga, or meditation. These techniques can help activate the body’s relaxation response, counteracting the stress response and lowering cortisol levels.
  • Engage in activities you enjoy. Taking time for hobbies and leisure pursuits can be a great way to reduce stress and improve your mood.
  • Consider spending time in nature. Studies have shown that spending time outdoors can have a calming effect and reduce cortisol levels.

Other Lifestyle Factors

  • Limit caffeine intake, especially later in the day. Caffeine can interfere with sleep and potentially elevate cortisol levels.
  • Moderate alcohol consumption. Alcohol disrupts sleep and can lead to elevated cortisol levels.
  • Consider quitting smoking if you smoke. Smoking is a stressor and can increase cortisol levels.
  • Maintain a healthy exercise routine. Regular exercise can be a great way to manage stress and improve sleep, which can help regulate cortisol levels. However, avoid excessive exercise as this can have the opposite effect.

Remember: It’s important to consult with a doctor if you’re concerned about chronically high cortisol levels. They can assess your situation, recommend the most appropriate course of action, and potentially address any underlying medical conditions.

About the LifeDNA Vitamins & Supplements Report

We all know the importance of a healthy diet, a good exercise routine, and relaxation, to cortisol levels and other bodily functions. However, sometimes, our bodies crave a little extra support. That’s where vitamins and supplements come in.

With the LifeDNA Vitamins & Supplements Report, you can gain personalized insights into which vitamins and supplements may best support your unique genetic makeup and lifestyle, helping you optimize your well-being. 

Take a step towards a better you and unlock the power of personalized wellness with the LifeDNA Vitamins & Supplements Report. Get your report today and discover how targeted supplementation can enhance overall wellness and vitality.

Summary

  • Cortisol, a steroid hormone produced by the adrenal glands, regulates our body’s response to stress, among other functions.
  • Cortisol levels follow a circadian rhythm, peaking in the morning to aid wakefulness and declining throughout the day to facilitate relaxation and sleep.
  • Abnormal cortisol levels, whether high (hypercortisolism) or low (Addison’s disease), can lead to various health issues and hormonal disorders.
  • Genetic factors, including variants in genes like SERPINA6 and SERPINA1, play a significant role in regulating cortisol metabolism and response to stress.
  • Several factors such as stress, diet, sleep, exercise, caffeine, alcohol, smoking, medications, and medical conditions can influence cortisol levels.
  • Lifestyle changes including diet, sleep hygiene, stress management techniques, and other healthy habits can help optimize cortisol levels and overall well-being.
  • Phosphorus is an essential non-metal, symbolized as P on the periodic table. It is a mineral that is crucial for biological molecules (DNA, RNA, ATP), energy transfer, cellular structure, and genetic coding. It is also vital in cycles through ecosystems, influencing food production, but overuse can lead to environmental issues like water pollution.
  • Phosphorus is mainly sourced from phosphate rocks globally, concentrated in regions like North Africa, China, Russia, and the United States.
  • In agriculture, phosphorus fertilizers enhance crop growth, but their careful management is essential to prevent environmental concerns.
  • The body needs phosphorus. It is indispensable for DNA, RNA, ATP, bone structure, and cellular functions. It also plays a role in protein synthesis, enzyme activity, pH balance, and endocrine regulation.
  • Dietary intake, calcium-phosphorus ratio, vitamin D status, renal function, medications, physical activity, age, and gastrointestinal disorders influence phosphorus levels.
  • Phosphorus also contributes to cell membrane structure, blood buffering, endocrine gland function, brain, nervous system, and muscle function.
  • Phosphorus is vital for various bodily functions, emphasizing the need for a balanced intake. However, excessive intake can lead to health complications, and maintaining optimal levels is crucial for overall well-being.

References

  1. https://www.ncbi.nlm.nih.gov/books/NBK538239/
  2. https://my.clevelandclinic.org/health/articles/22187-cortisol
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3475279/
  4. https://www.ncbi.nlm.nih.gov/books/NBK470218/
  5. https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1004474
  6. https://www.mdpi.com/2218-1989/12/1/61
  7. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5579396/#:~:text=Also%2C%20chronic%20stress,1985%5B98%5D).
  8. https://pubmed.ncbi.nlm.nih.gov/9415946/
  9. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2257922/
  10. https://pubmed.ncbi.nlm.nih.gov/16337291/

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports have not been evaluated by the Food and Drug Administration. The contents on our website and our reports are for informational purposes only, and are not intended to diagnose any medical condition, replace the advice of a healthcare professional, or provide any medical advice, diagnosis, or treatment. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results. The testimonials featured may have used more than one LifeDNA or LifeDNA vendors’ product or reports.

Genetic Factors Influencing Birth Weight

Aira on March 22, 2024

Birth weight (BW) is the first weight of a newborn, measured shortly after birth. This metric is crucial for assessing the newborn’s health status and potential healthcare needs. Typically recorded in kilograms or pounds, birth weight is a pivotal indicator of the baby’s growth and development in the womb and can signal various health conditions.

An optimal birthweight reflects adequate nutrition and fetal development during pregnancy, which is vital in determining a child’s immediate and long-term health outcomes. High or low birth weights can lead to different health challenges, making this measurement essential for neonatal care and future health planning.

Birth weight

What is Considered Low Birth Weight?

If the weight at birth is less than 2,500 grams (5 pounds, 8 ounces), it is termed low birthweight (LBW).  This condition can result from premature birth, where the infant is born before the 37th week of pregnancy, or from intrauterine growth restriction (IUGR), where the growth of the fetus is limited. 

LBW is a significant concern for healthcare providers as it is associated with an increased risk of infant mortality and various developmental and health problems later in life, including cardiovascular diseases, diabetes, and respiratory conditions. To improve survival rates and health outcomes of newborns, managing and preventing LBW is a priority in neonatal care.

Is Birth Weight Hereditary?

Both hereditary (genetic) and environmental factors influence birth weight. The genetic component is evident in the observed similarity in birthweight among relatives. An early study observed that birth weights of parents explain 2% of the variance in birth weights of sons and 5% in daughters.

A 2021 meta-analysis found a significant positive correlation between the BW of twins and 150 previously identified genetic variants linked to singleton BW. Furthermore, a strong genetic correlation was observed between BW in twins and singletons, with a genetic correlation (rg) value of 0.92, indicating a similar genetic architecture for BW in both groups.

Genetic Factors Influencing Birthweight

Several genetic factors can influence birth weight by affecting fetal growth and development. These factors include gene variations related to growth factors, metabolism, and the placenta’s development and function. 

A 2018 GWAS analyzed data from up to 86,577 women of European descent, part of the Early Growth Genetics (EGG) Consortium and the UK Biobank; researchers identified maternal genetic variants at ten loci (including MTNR1B, HMGA2, and CYP3A7) that are associated with offspring birth weight.

MTNR1B

MTNR1B is involved in the physiological regulation of insulin secretion and glucose homeostasis. It has implications for metabolic control within the body. Variants in the MTNR1B gene are associated with altered fasting glucose levels, increased risk of type 2 diabetes, as well as gestational diabetes. Research has also shown a link between genetic variations in MTNR1B and differences in birth weight, suggesting that the gene may influence fetal growth through its effects on maternal glucose metabolism and possibly other pathways related to melatonin signaling.

A 2015 meta-analysis of 11 GWAS involving 19,626 women of European descent pinpointed 18 SNPs for further examination in up to 13 additional studies comprising 18,319 women. One SNP within the MTNR1B gene (rs10830963) reached genome-wide significance, demonstrating a notable association with birth weight and known links to fasting glucose levels, type 2 diabetes, and gestational diabetes from previous studies. Specifically, each copy of the rs10830963 G-allele, associated with higher fasting glucose, was linked to a 31g increase in offspring birth weight. 

HMGA2

The HMGA2 (High Mobility Group AT-hook 2) gene encodes a protein that belongs to the high mobility group (HMG) of non-histone chromosomal proteins. HMGA2 is particularly notable for its involvement in developmental processes. Variants in this gene have been associated with human height, suggesting a significant role in growth. HMAGA2 has been linked to birth weight and affects adipose (fat) tissue mass, indicating its relevance in prenatal development and metabolic regulation.

The SNP rs1351394 within the HMGA2 gene, known for its role in encoding the high mobility group-A2 protein, was associated with birth weight in Ladakhi offspring. High mobility group (HMG) proteins are critical nuclear components that bind to DNA, altering chromatin structure and thus regulating gene expression. The HMGA2 gene, in particular, has been linked to variations in height and birth weight among lowland populations and differences in adipose (fat) mass in pigs. It positions HMGA2 as a biologically plausible candidate for influencing these traits also in humans, highlighting its significance in genetic studies focused on physical development.

However, genetics alone does not influence birth weight. Your genes interact with environmental and maternal factors during pregnancy. The heritability of birthweight suggests that while genetics plays a role, it is part of a complex interplay of factors that affect fetal development.

Beyond the interesting findings of genetic variants in biologically relevant genes, also so called Polygenic Risk Scores (PRS) can be developed for the association between SNPs and Birth Weight. The PRS embrace the polygenic nature common to many human traits. The LifeDNA’s SNP signature for Birth Weight is based on a PRS that includes over 6,000 SNPs (top 15 shown) , derived from a large study involving over 280,000 participants.

Non-Genetic Factors Influencing Birth Weight

Non-genetic factors significantly influence birth weight, a crucial determinant of newborn health and future development. These factors vary widely and include maternal, environmental, and lifestyle elements. Understanding these can help manage or mitigate risks associated with low or high birth weights. Here are some notable non-genetic factors:

  • Maternal Health and Nutrition: The mother’s health and nutritional status before and during pregnancy are critical. Malnutrition or poor diet can lead to low birth weight, while excessive weight gain can result in a higher birth weight. Conditions like gestational diabetes and hypertension also impact birth weight.
  • Prenatal Care: Regular prenatal check-ups help monitor the health of both the mother and the fetus. Early detection and management of potential issues can influence birth weight outcomes.
  • Maternal Age: Teen mothers or those over 35 are at higher risk of having babies with low or high birth weight, respectively, due to various physiological and health-related factors.
  • Lifestyle Factors: Smoking, alcohol consumption, and drug use during pregnancy lead to reduced birth weight and adverse health outcomes for the newborn.
  • Environmental Exposures: Exposure to pollutants, toxins, and certain chemicals during pregnancy can affect fetal growth and lower birth weights.
  • Socioeconomic Status: Lower socioeconomic status is often associated with reduced access to quality healthcare, nutrition, and higher stress levels, all of which can influence birth weight.
  • Stress and Emotional Well-being: High-stress levels and poor emotional well-being during pregnancy can negatively impact birth weight, possibly due to hormonal imbalances and other physiological changes.
  • Physical Activity: Moderate physical activity during pregnancy is beneficial, but excessive or strenuous exercise might adversely affect birth weight.
  • Multiple Pregnancies: Twins or multiple births often have lower birth weights compared to single-birth pregnancies due to space and resource constraints in the womb.
  • Gestation Period: The length of the pregnancy significantly influences birth weight; preterm births usually result in lower birth weights, while post-term births might lead to higher birth weights.

What New Mothers Can Do to Ensure Healthy Birth Weight

New mothers can take several proactive steps to promote a healthy birth weight for their newborns. These include securing regular prenatal care to monitor the baby’s development, adopting a healthy diet rich in essential nutrients, and avoiding harmful substances like tobacco, alcohol, and illicit drugs. 

Managing chronic health conditions and seeking appropriate treatment for pregnancy-related issues are also vital. Additionally, staying active within healthcare provider recommendations can support healthy fetal growth. Educating themselves about pregnancy and newborn care and utilizing available resources and support systems can enhance the chances of a healthy birthweight and a positive start to their child’s life.

About the LifeDNA Report on Birth Weight

The LifeDNA Wellness Report includes Birth Weight Trait, delving into genetics’ substantial impact on fetal growth and birth weight. The report also notes that fetal genes may counterbalance maternal genetic influences, sometimes resulting in lower birth weight. It highlights the intricate genetic dance that determines birth weight, suggesting that the interplay is far from straightforward and that multiple genetic and environmental factors influence it.

The significance of understanding these genetic influences extends beyond birth. The genetic markers associated with birth weight are indicators of neonatal health. They can serve as crucial predictors for future wellness outcomes. Identifying these genetic factors opens up the possibility of personalized health insights from an early stage, allowing for targeted interventions that could mitigate health risks later in life.

References

  1. https://pubmed.ncbi.nlm.nih.gov/3506187/
  2. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8444448/
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886200/
  4. https://www.biorxiv.org/content/10.1101/034207v1.full.pdf
  5. https://www.biorxiv.org/content/10.1101/2022.05.26.493635v1.full.pdf
  6. https://www.ncbi.nlm.nih.gov/gene/8091

*Understanding your genetics can offer valuable insights into your well-being, but it is not deterministic. Your traits can be influenced by the complex interplay involving nature, lifestyle, family history, and others.

Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.

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