Using Genetic Data to Manage your Cholesterol Levels

Renette Salvador on July 4, 2025

Disclaimer: This article is for informational purposes only and is not intended to diagnose any conditions. LifeDNA does not provide diagnostic services for any conditions mentioned in this or any other article.

What Is Cholesterol?

Cholesterol is a waxy, fat-like substance that your body needs to stay healthy. It helps build cells, make hormones, and produce vitamin D. Your body makes most of the cholesterol it needs in the liver, but you also get some from foods like meat, cheese, eggs, and butter. While cholesterol is important, having too much of it in your blood can be dangerous. When there’s an unhealthy amount of cholesterol, it may stick to the walls of your arteries.  These are the blood vessels that carry oxygen-rich blood to your heart and other parts of your body.

You may want to read: How Can Genetics Influence Cholesterol Levels?

What Are The Two Types of Cholesterol?

There are two main types of cholesterol, and they have very different effects on your health. LDL, or low-density lipoprotein is often called the “bad” cholesterol. That’s because too much LDL can build up in your arteries forming a thick, hard substance called plaque. On the other hand, HDL, or high-density lipoprotein, is known as the “good” cholesterol. HDL helps remove extra cholesterol from your blood and carries it back to the liver, where your body can get rid of it.

Why Can Cholesterol Be a Problem?

Cholesterol is important for your body to function properly, but having too much of it, especially the wrong kind can be harmful. Cholesterol travels through your bloodstream, and when there is too much low-density lipoprotein (LDL), it can begin to stick to the walls of your arteries. Over time, this sticky buildup may narrow or block your arteries. When blood has a harder time flowing through your body, your heart has to work harder to keep things moving. This increases your risk of serious health problems, including heart disease. If an artery becomes completely blocked, it may lead to a heart attack or stroke. That’s why keeping your cholesterol levels in a healthy range is so important for your long-term heart and brain health.

What Affects Your Cholesterol Levels?

Your cholesterol levels are influenced by a mix of lifestyle choices and inherited traits. One of the biggest factors is your diet. Eating a lot of fried, fatty, or highly processed foods, like fast food, chips, and baked goods can increase the amount of LDL in your blood. Your body weight matters too. Being overweight or obese can cause your body to produce more LDL and reduce your HDL, making it harder to keep your arteries clear.

Some people are born with gene variants  that make their bodies naturally produce or keep more cholesterol than normal. This means they may struggle with high cholesterol no matter how healthy their lifestyle is. That’s why understanding your DNA and your genetic makeup can be such a powerful tool. It can help explain how your body handles cholesterol and guide you toward the most effective way to manage it.

How Your DNA Affects Cholesterol

Your DNA has a major influence on how your body handles cholesterol. While lifestyle choices like diet and exercise are important, some people are born with genetic makeup that makes it harder to keep their cholesterol levels in a healthy range. One example is hypercholesterolemia (FH) which occurs often from a young age, and increases the risk of early heart disease. But FH is just one example. There are many other ways your genes can affect cholesterol. Here are a few of the most important ones:

  • Cholesterol absorption in the intestine: Some people have gene versions that cause their bodies to absorb more cholesterol from food than others. Even if they eat the same meal as someone else, their blood cholesterol may rise more quickly.
  • Liver function and LDL clearance: The liver helps clear LDL cholesterol from your blood. Certain genetic variations can reduce how well the liver performs this task, leading to higher LDL levels.
  • Triglyceride levels: Triglycerides are another type of fat in your blood. Genes may influence how your body stores and uses these fats, which also affects your overall heart health.
  • Statin response and side effects: Statins are common medications used to lower cholesterol. However, not everyone responds to them the same way. Some people may see great results, while others might experience side effects due to their genetic variation.

Understanding how these genetic factors affect your body can make a big difference in how you can manage your cholesterol. 

Using Genetic Data to Manage Your Cholesterol Levels

Genetic information is only the first step. Once a genetic risk like familial hypercholesterolemia is identified, care can be personalized to manage your cholesterol levels:

  • Healthier Eating: A diet low in saturated fats and high in fiber supports cholesterol control. Genetic insights can reveal who may benefit more from specific dietary adjustments, since some people remain at risk despite healthy eating.
  • Regular Exercise: Physical activity raises HDL and lowers LDL. With genetic testing, doctors can identify patients who need stricter exercise goals to offset inherited risks.
  • Quitting Smoking: Smoking damages blood vessels, worsening cholesterol-related heart risks. Genetic information highlights who is especially vulnerable to early heart disease, making smoking cessation even more critical.
  • Family-Based Care: Because cholesterol-related genes are inherited, family members can also be tested. This  screening ensures treatment and prevention reach everyone at risk.
  • Education and Support: Lifestyle changes and medications work best when patients understand their genetic risks. Genetic information gives patients a clearer picture of why care is necessary, boosting motivation and long-term commitment.

References

Fasting and Genetics

Catherine on July 3, 2025

Disclaimer: This article is for informational purposes only and is not intended to diagnose any conditions. LifeDNA does not provide diagnostic services for any conditions mentioned in this or any other article.

What Is Fasting?

Fasting has been practiced for thousands of years across cultures and religions, often for spiritual, cultural, or health reasons. In recent years, it has gained popularity as a modern health trend, known for its benefits such as weight loss, improved blood sugar control, increased energy, and even longevity.  However, fasting doesn’t affect everyone the same way. While some individuals feel more energized and focused, others experience fatigue, irritability, or different end results. 

Understanding how fasting impacts your body can help you tailor your eating and fasting schedule for more effective and sustainable outcomes.

You may want to read: Do Weight Loss DNA Tests Actually Work?

How Does Fasting Work in the Body?

When you eat regularly, your body gets most of its energy from glucose, which comes from the carbohydrates in your meals from food items like  bread, rice, fruits, and sugar. After eating, your body uses this glucose for fuel.

Any extra glucose is stored in your liver and muscles in the form of glycogen. However, when you begin fasting and stop eating for several hours, your body no longer receives that steady stream of glucose from food. In the first 8 to 12 hours of fasting, your body starts using up its stored glycogen to keep your energy levels stable. Once those glycogen stores run low, your body needs to find another way to fuel itself. That’s when it begins breaking down stored fat for energy. 

As your body burns fat, it also produces something called ketones which are natural chemicals made in the liver. Ketones become an important source of energy, especially for your brain, which usually runs on glucose but can also use ketones for energy during fasting. Fasting works by helping your body switch from using sugar to using fat for energy. Along the way, it also balances hormones and promotes natural repair processes. 

You may want to read: The Role of Genetics in Hunger Response Control

What Are the Benefits of Fasting?

Below are some of the most known common advantages of fasting: 

  • Weight Loss: Fasting helps reduce your calorie intake by limiting the time you eat. During a fast, your body uses stored fat for energy instead of relying on food. This may lead to steady and natural weight loss over time.
  • Lower Inflammation: Fasting may help lower inflammation in the body. By giving your digestive system a break, your body can focus on repairing damaged cells and reducing stress on your immune system.
  • Improved Insulin Sensitivity: Fasting can make your body more sensitive to insulin, the hormone that controls blood sugar. Better insulin sensitivity means your body can manage blood sugar more effectively, which lowers the risk of type 2 diabetes.
  • Better Brain Function: Fasting can increase the production of brain-supporting chemicals and helps improve memory, focus, and overall mental clarity. Fasting may also protect the brain from age-related decline.

Studies on Genetics and  Fasting 

One study looked at whether  fasting is practical for people to follow and whether it affects aging and metabolism. In the study, 24 healthy adults followed a diet where they ate very little one day (25% of normal calories) and much more the next (175%), keeping their total calories stable over time. They also tested whether taking antioxidant vitamins C and vitamins E would affect any benefits of the diet.

The results showed that people could stick to the recommended intermittent fasting diet without major problems, and it didn’t cause weight loss or health issues over the short term. However, other beneficial effects were discovered. Fasting  was noticed to slightly increase the activity of a gene called SIRT3, which helps protect cells and is linked to aging. Fasting  also lowered insulin levels, which could mean better blood sugar control. 

Interestingly, when participants took vitamin C and E supplements (which act as antioxidants), some of these positive effects were reduced. This supports the idea that the mild cellular oxidative stress caused by fasting may actually be helpful, by encouraging the body to activate its own protective systems.

Another study explored the effects of caloric restriction and intermittent fasting on physiological traits in 960 genetically Diversity Outbred mice and investigated how these interventions interact with genetics. Researchers assessed 36 traits covering metabolism, cardiovascular function, motor ability, hearing, and activity. The results showed that caloric restriction and fasting had different and sometimes opposite effects on health, with 40% caloric restriction having the largest physiological impact.

However, not all effects were beneficial or proportional to the level of dietary restriction. Importantly, genetic variation played a major role in 31 of 36 traits that were significantly influenced by heritable genetic differences, with heritabilities ranging from 0.04 to 0.65. The researchers mapped 18 significant genetic loci, including two where the effects depended on the diet, particularly influencing cardiac traits. These gene-by-diet interactions demonstrate that the benefits or drawbacks of dietary interventions are not the same for everyone. Overall, the study shows that both diet and genetics  and especially their interaction shape physiological health responses, emphasizing the need for personalized approaches in dietary interventions.

How to Fast More Effectively Based on Your Genes

Fasting becomes far more effective when it’s personalized. By choosing the right method, tracking your body’s response, syncing with your natural rhythms, and fueling wisely, you can align fasting with your genes unlocking better results and long-term health benefits.

  • Choose a Fasting Style That Suits Your Body: Different fasting methods work better for different people and your genes may influence how your body reacts to fasting. Some people do well with shorter daily fasts, like 14:10 or 16:8, where you fast for part of the day and eat during a set window. These are gentle, easy ways to start and are generally well-tolerated. Others may benefit more from less frequent but longer fasts, such as alternate-day fasting or the 5:2 approach, where calorie intake is reduced on certain days of the week. The key is to listen to your body, start slow, and notice how your energy, hunger, and focus respond. Over time, you can adjust your fasting method to better match your body’s natural tendencies, which may be influenced by your unique genetic makeup.
  • Monitor Key Health Markers:  Tracking your body’s response to fasting can offer valuable insights into how your genes are influencing your progress. Use tools like a health journal to log important data, such as blood sugar levels, ketone production, energy, mood, and hunger. This real-time feedback can help you fine-tune your fasting routine and catch early signs of imbalance, especially if you’re predisposed to issues like hormonal imbalances.
  • Align Your Fasting Schedule with Your Body Clock:  Your circadian rhythm or your body’s internal clock, is partially influenced by genetics. Some people are naturally more efficient at digesting food earlier in the day, while others metabolize nutrients better in the evening. Time-restricted eating, such as eating only between 9 a.m. and 5 p.m., can support your natural rhythms if you have genetic variants tied to circadian-related metabolism. Eating in sync with your internal clock may improve digestion, sleep quality, and blood sugar regulation.
  • Prioritize Nutrient-Dense Foods During Eating Windows:  No matter how “fasting-friendly” your genes are, what you eat during your eating windows matters just as much as when you eat. A poor-quality diet can blunt the benefits of fasting and even increase inflammation. Focus on nutrient-dense, whole foods like fiber-rich vegetables, healthy fats (e.g., avocado, nuts, olive oil), lean proteins (like fish, chicken, or legumes), and complex carbohydrates in moderation. These choices can support stable energy, reduce cravings, and work in harmony with your body’s genetic blueprint.

References

 

How genes influence the withdrawal symptoms of caffeine

Catherine on July 2, 2025

Disclaimer: This article is for informational purposes only and is not intended to diagnose any conditions. LifeDNA does not provide diagnostic services for any conditions mentioned in this or any other article.

Ever wonder why skipping your morning coffee leaves you with a pounding headache, while some others  seem perfectly fine? In the United States, nearly 90% of adults consume caffeine daily. Its widespread  appeal comes from its ability to increase energy, lift mood, and sharpen focus. But when that daily dose wears off or when you suddenly stop, withdrawal symptoms may hit hard. These symptoms don’t affect everyone the same way. It can vary depending on age, overall health, and even your genetic makeup.

Understanding how your body responds to caffeine and how it reacts when caffeine is taken away is important because it helps you make informed decisions about your well-being , energy levels, and daily habits.

You may want to read: Is Caffeine Sensitivity Genetic? 

What Is Caffeine Withdrawal?

Caffeine withdrawal is a physical and psychological response that may occur when someone who regularly consumes caffeine suddenly stops or significantly reduces their intake. It’s recognized by the World Health Organization and the Diagnostic and Statistical Manual of Mental Disorders as a real condition. Withdrawal typically begins within 12 to 24 hours after the last dose and can last several days to a week.

What Causes Caffeine Withdrawal?

Caffeine works by blocking adenosine receptors in the brain, which helps you feel more alert and awake. Over time, your body compensates by producing more adenosine receptors. When you abruptly stop consuming caffeine, there’s suddenly more unblocked adenosine activity, leading to symptoms like fatigue and headache.

In regular users, the brain and nervous system become chemically dependent on caffeine to maintain normal function. The sudden absence disrupts neurotransmitter levels, particularly dopamine and norepinephrine, which may affect mood, concentration, and energy.

What Are the Symptoms of Caffeine Withdrawal?

Not everyone experiences caffeine withdrawal the same way. Your genes can play a role in how intense or mild these symptoms feel. Here are the most common ones:

  • Headaches: Many people experience a steady or throbbing headache during caffeine withdrawal. For some, it’s a mild annoyance; for others, it can be persistent and affect daily comfort.
  • Feeling tired or drowsy: You may feel unusually sleepy or low on energy throughout the day, especially if your body has grown used to regular caffeine boosts.
  • Irritability or mood changes: Some people become easily annoyed, impatient, or emotionally sensitive. These shifts in mood can make everyday situations feel more difficult than usual.
  • Trouble focusing: It might feel harder to concentrate or stay mentally sharp. Tasks that are usually simple may require more effort and feel mentally draining.
  • Low motivation or feeling down: A drop in motivation or mood is common during withdrawal. You might feel emotionally flat, less driven, or not as engaged in daily activities.
  • Flu-like symptoms: Some people feel achy or mildly unwell, similar to having a light cold. This may include chills, muscle soreness, or general discomfort.
  • Feeling anxious or restless: Even without caffeine, you might feel uneasy, jittery, or unsettled as your body adapts to functioning without its usual stimulant.
  • Nausea or muscle aches: Stomach discomfort or muscle soreness,especially in the neck, shoulders, or back—can occur, though this varies from person to person.

You may want to read: Genetic Response Anhydrous Caffeine: Benefits, Risks, and Safe Usage

Why Do Some People Have No Withdrawal Symptoms at All?

Your genes, daily habits, and how much caffeine you usually drink all affect how your body reacts when you stop. Some people have genetic traits that make them less sensitive to biochemical brain changes caused by caffeine withdrawal, so they don’t feel symptoms as strongly. Others may not drink as much caffeine or only have it once in a while, which lowers their risk of becoming dependent or going through withdrawal.

Genetics on Caffeine Withdrawal Symptoms

Twin and genetic studies show that genetics has a major impact on how we consume caffeine, how we respond to it, and how we experience withdrawal. Heritability estimates for caffeine-related traits, like withdrawal symptoms, insomnia, and caffeine tolerance range from 34% to 58%, meaning that a large part of how we react to caffeine is influenced by our genes.

Research studies  have looked specifically at caffeine withdrawal in twins. One found that the likelihood of experiencing withdrawal symptoms,like headaches, fatigue, or mood changes has a genetic component, with a heritability of about 35%. This suggests that some people may be naturally more prone to withdrawal symptoms simply because of their genetic makeup.

Two main types of genes have been studied in relation to caffeine:

  • Metabolism genes like CYP1A2 affect how quickly caffeine is broken down in the body. People with slower versions of this gene may feel the effects of caffeine longer and may also experience withdrawal differently.
  • Receptor genes like ADORA2A influence how caffeine interacts with brain receptors, which can affect alertness, anxiety, and sleep. Variations in these genes can make someone more sensitive to the effects of caffeine and possibly more sensitive to withdrawal as well.

Studies using twins have shown that the tendency to use caffeine isn’t just about habit or environment, it’s partly inherited. One study found that heavy caffeine use (over 625 mg/day, more than six  8fl oz cups) had a heritability of 77%, meaning heavy users may be more genetically driven to consume caffeine and therefore might have stronger withdrawal symptoms when they stop.

An Australian study examined whether knowing your genetic makeup affects caffeine withdrawal symptoms, and if believing you’ve consumed caffeine, changes how you feel during withdrawal. Researchers gave regular coffee drinkers a fake genetic test and told them either that they had a gene linked to stronger caffeine withdrawal or that they did not. After 24 hours without caffeine, participants reported their withdrawal symptoms, after whichall participants drank decaffeinated coffee but were told either that it contained caffeine or that it was decaf.

The study found that participants who believed they drank caffeinated coffee experienced fewer withdrawal symptoms, even though no caffeine was actually consumed. However, the information about having the “withdrawal gene” did not change the severity of symptoms. This suggests that expectations about caffeine intake can influence how withdrawal feels, but simply knowing about a genetic predisposition does not automatically make symptoms worse. This highlights that genetics might not always predict withdrawal experiences alone; psychological factors and beliefs also play an important role. The study suggests that while genetics can play a role in caffeine withdrawal, how much we expect symptoms, and what we believe about caffeine, might be even more important. More research is needed to understand when and how genetic information influences withdrawal and health symptoms.

How Can You Manage Caffeine Withdrawal Based on Your Genetics?

  • Gradually reduce caffeine: If your genes make you more sensitive to caffeine withdrawal, suddenly stopping can trigger stronger symptoms. Slowly cutting back over several days helps your body adjust more gently and reduces the intensity of withdrawal.
  • Stay hydrated: Headaches and tiredness are common symptoms, especially in people whose genetic makeup affects how their body reacts to changes in caffeine. Drinking enough water can help relieve these symptoms and support your body’s natural balance.
  • Prioritize sleep and rest: Some people feel more tired or mentally foggy due to genetic factors that influence how their brain responds to caffeine. Getting enough sleep and taking breaks can help your body recover and maintain energy levels without caffeine.
  • Use alternatives like decaf or herbal teas: If you enjoy the habit or comfort of drinking something warm, switching to non-caffeinated options can help you stay consistent without triggering your body’s dependence, especially helpful for those genetically more sensitive to caffeine changes.
  • Consider talking to a healthcare provider:  If you’ve noticed that caffeine affects you more strongly than others, your genes may be playing a role. A professional may help you understand your genetic profile and recommend the best way to manage or reduce caffeine intake based on your body’s needs.

References

Can Age-Related Macular Degeneration be Genetic?

Catherine on June 12, 2025

Disclaimer: This article is for informational purposes only and is not intended to diagnose any conditions. LifeDNA does not provide diagnostic services for any conditions mentioned in this or any other article.

It is estimated that 8 percent of people around the world have signs of age-related macular degeneration. The condition currently affects about 11 million Americans and 170 million people worldwide, and the prevalence is expected to increase over the coming decades as the proportion of older people in the population increases.

Age-related macular degeneration is a chronic eye condition that commonly leads to vision loss in seniors, making it a leading cause of blindness in the aging population. Understanding age-related macular degeneration is important, not only because of its growing impact, but also to help people recognize early warning signs, reduce risk through healthy lifestyle choices, and explore available treatments that can slow its progression and preserve vision for as long as possible.

You may want to read: How to Improve Eye Health Naturally With Vitamin A

What Is Age-Related Macular Degeneration?

Age-related macular degeneration or AMD, is an eye disease that slowly damages a part of the eye called the macula. The macula is located in the center of the retina, the light-sensitive layer at the back of your eye ball, and it’s responsible for your central vision; the sharp, clear vision you need to read, recognize faces, and see fine details as well as colors. 

 

When the macula becomes damaged, your central vision gets blurry or distorted. You might still have side peripheral vision, but the center of what you see may look blurry, wavy, or even dark. Over time, this can make it hard to do everyday things like reading or doing something more detailed. 

What Are The Two Types of Age-Related Macular Degeneration? 

 

  • Dry Age-Related Macular Degeneration: The more common form of age-related macular degeneration, affecting about 80 to 90 percent of people with AMD. It develops gradually as the macula, the part of the retina responsible for sharp central vision thins over time. Small yellow deposits called drusen build up under the retina, which may interfere with normal cell function. Vision loss in dry AMD tends to be slow and progressive, often starting with mild blurriness or difficulty seeing details, especially in low light. While dry AMD usually causes less severe vision loss than the wet form, it may still make everyday tasks like reading and recognizing faces challenging. In some cases, dry AMD can progress to the more serious wet form.

 

  • Wet Age-Related Macular Degeneration: Less common but much more serious than dry AMD. It occurs when abnormal blood vessels grow underneath the retina and macula. These vessels are fragile and prone to leaking blood and fluid, which damages the macula quickly and may cause sudden and severe vision loss. Symptoms often include distorted or wavy vision and dark spots appearing in the center of vision. Because wet AMD may cause rapid deterioration, early diagnosis and treatment are crucial. Treatments such as injections that block the growth of abnormal blood vessels or laser therapy may help slow the progression and prevent further vision loss.

 

You may want to read: Navigating Vitamin A: Your Genetic Blueprint for Vision and Wellness

What Are The Symptoms of Age-Related Macular Degeneration?

  • Blurry or distorted central vision: This means that the center part of your vision, where you see the most detail, becomes unclear or warped. For example, straight lines might look bent or wavy, and things you focus on may appear fuzzy or out of focus.
  • Difficulty reading or recognizing faces: As your central vision gets worse, it can become hard to see small letters clearly or to tell who someone is just by looking at their face, even if they are nearby.
  • A dark or empty area in the center of vision: Sometimes a shadow or blank spot appears right in the middle of what you’re looking at. It can look like a gray or black patch that blocks part of your view.
  • Colors appearing less vibrant:  Colors might start to look duller or less bright than they used to be. This happens because the damaged area of your eye affects how well you see colors.

What Causes of Age-Related Macular Degeneration?

The exact cause of age-related macular degeneration (AMD) is not fully understood, but researchers agree that it develops due to a mix of genetic predispositions and environmental influences. This means that while some people may inherit gene variants that increase their risk, lifestyle and health factors also play a significant role in whether the disease develops or worsens.

  • Age is the most significant risk factor for AMD. The condition primarily affects people over the age of 50, and the likelihood of developing it increases as you get older. This is because, over time, the cells in the retina can deteriorate naturally, making older adults more vulnerable to damage.
  • Genetics also contribute to AMD risk. If you have family members who have had the disease, your chances of developing it are higher. Scientists have identified specific gene variations linked to AMD, which can affect how the retina ages and responds to damage.
  • Ethnicity influences AMD prevalence as well. Studies show that people of European descent are more likely to develop AMD compared to African Americans, for example. The reasons for this difference are still being researched but may involve genetic and environmental factors.
  • Smoking is one of the most significant modifiable risk factors. Smoking doubles the risk of AMD and accelerates its progression by damaging blood vessels and increasing oxidative stress in the retina.

Genetics on Age-Related Macular Degeneration 

GWAS have helped scientists discover that genetics plays a major role in age-related macular degeneration. These studies look at the genes of thousands of people to find patterns. So far,  research studies  have found over 30 genes that may be involved in increasing a person’s risk of developing AMD.

Two genetic areas have shown the strongest link to AMD. One contains a group of immune system genes called the complement cascade, found on chromosome 1. The other involves the ARMS2 and HTRA1 genes on chromosome 10. The complement system normally protects the body by attacking harmful bacteria and viruses. But in some people, it may overreact and mistakenly damage healthy cells in the retina. This can lead to inflammation and vision loss. This is why many scientists believe that inflammation is one of the main causes of AMD.

Researchers aren’t exactly sure how the ARMS2 and HTRA1 genes work, but they do know these genes are closely tied to both the development of AMD and how quickly it gets worse. It’s important to understand that having these genetic changes doesn’t mean you will definitely get AMD. It simply means your risk is higher. On the other hand, some people may have gene variants that actually protect them and lower their risk of getting the disease.

The Population Architecture Using Genomics and Epidemiology (PAGE) study showed that the genetic risk markers for age-related macular degeneration (AMD) vary among different ethnic groups, such as Mexican Americans, Asian Americans, African Americans, and non-Hispanic White Europeans. For example, major risk  variants in genes like ARMS2 and CFH, which are common risk factors in White Europeans, were not significant in non-European populations. Similarly, a research study in East Asians found different genetic variants related to cholesterol and lipid metabolism that affect AMD risk, and these variants interacted with factors like high HDL cholesterol levels.

These findings highlight that genetic risk for AMD can differ greatly between ethnic groups. However, these differences don’t fully explain why some populations have lower rates of AMD. In some groups, protective genetic variants may play a bigger role. For example, in Timor-Leste, AMD is very rare, and although the risk allele of the HTRA1 gene was at a significantly higher frequency in the Timorese, people there often carry protective gene variants of CFH and other genes, rather than all the typical risk variants seen in other populations.

This shows that protective gene variants might be just as important, or even more important, than risk genes in determining who develops AMD. To better understand these differences, future studies need to look at both genetics and environmental factors across diverse populations. This knowledge will be essential for developing personalized medicine approaches that work for each one of us.

Can You Inherit Age-Related Macular Degeneration?

You can’t directly inherit AMD like some other diseases, but it may run in families due to many of the same inherited genetic variants. If a parent or sibling has it, your risk is higher. About 15 to 20 percent of people with age-related macular degeneration have a close relative who also has it. 

Diagnosis of Age-Related Macular Degeneration

Diagnosing age-related macular degeneration typically involves a comprehensive eye exam performed by an optometrist or ophthalmologist. Since AMD often develops slowly and may not cause noticeable symptoms at first, regular eye exams are important especially for adults over the age of 50 or those with a family history of the disease.

Early diagnosis of AMD is important because it allows for timely treatment and lifestyle changes that may slow the disease and protect your vision. If you experience any changes in vision such as blurriness, distortion, or dark spots, schedule an eye exam as soon as possible.

Can you Treat Age-Related Macular Degeneration?

Although there is currently no cure for age-related macular degeneration, there are treatments that can slow its progression, preserve remaining vision, and reduce the impact on daily life, especially if the condition is caught early. Here are some steps to protect your vision:

  • Don’t smoke: Smoking significantly increases your risk of developing age-related macular degeneration and makes it worse if you already have it.
  • Eat a nutrient-rich diet: Leafy greens, fish, and foods high in antioxidants support eye health.
  • Wear sunglasses: Protect your eyes from harmful UV rays by wearing sunglasses outdoors.
  • Exercise regularly: Staying active helps manage blood pressure, cholesterol, and weight, all of which may affect eye health.
  • Get regular eye exams : Regular eye exams are important especially after the age of 50, even if you don’t notice symptoms. Early detection makes a big difference in treatment success.

References




Why Does GPX1 Gene Matter for Your Health?

Catherine on June 6, 2025

Disclaimer: This article is for informational purposes only and is not intended to diagnose any conditions. LifeDNA does not provide diagnostic services for any conditions mentioned in this or any other article.

Your body constantly works to keep itself healthy, especially by protecting its cells from damage. One of the ways it does this is through powerful antioxidant systems. One of the important parts in this system is a gene called GPX1.

Understanding this allows you to support your body with smarter steps to protect your wellness and keep your body strong. Understanding your genes can help you make smarter health choices and give your body the things it needs to thrive.

You may want to read: How Genetics Shapes Your Body’s Use to Glutathione

What is GPX1?

The GPX1 gene is an important part of your body’s defense system. It codes for the enzyme glutathione peroxidase 1, which helps clean up harmful byproducts and keeps oxidative stress in check. Oxidative stress happens when your body can’t keep up with the buildup of damaging byproducts created during normal cell activity.

What Does the GPX1 Do?

Inside each cell, chemical reactions are constantly taking place. Some of these reactions produce byproducts like hydrogen peroxide and lipid peroxides. If these aren’t properly cleared out, they can harm cells and contribute to oxidative stress.

This is where the GPX1 enzyme comes in. It helps break down those harmful substances, turning them into forms the body can safely remove. In doing so, GPX1 helps protect cells and supports overall health.

To work effectively, GPX1 relies on glutathione, one of the body’s most important natural antioxidants. Glutathione acts as a partner to GPX1, helping it neutralize damaging molecules. What makes GPX1 especially powerful is that it contains a rare building block called selenocysteine, a special version of the amino acid cysteine that includes the mineral selenium. This unique feature boosts the enzyme’s ability to fight oxidative stress.

What Is the C599T Genetic Variant?

While most people have the standard version of the GPX1 gene, some have a small genetic change called C599T also known as Pro198Leu, or the SNP rs1050450. This change replaces the C allele to a T allele. This small change may affect how well the GPX1 enzyme works. Studies have found that people with the T allele  of this SNP may have:

  • Weaker antioxidant protection:
     The T allele may make the enzyme less effective. This means your body isn’t as good at removing harmful substances that build up during normal cell activity.
  • Higher levels of oxidative stress:
     When your body can’t clear out these harmful substances properly, they build up and cause stress on your cells. This is called oxidative stress and may lead to cell damage over time.
  • Increased risk for certain health problems:
     If oxidative stress continues, it may raise your risk for serious conditions like cancer and heart disease. That’s why it’s important to support your body’s antioxidant system if you carry this gene variant.

How Can GPX1 Affect Health?

A research study on the GPX1 gene looked at the rs1050450 C>T  (C599T) variant and how it might affect people with diabetes. This gene makes an important antioxidant enzyme called glutathione peroxidase-1 (GPX1), which helps protect the body from oxidative stress. But when someone carries the T allele of this SNP, the enzyme doesn’t work as well.

Researchers studied over 1,100 people with diabetes from two separate groups in the UK. They found that people who carried the T allele were more likely to develop peripheral neuropathy, a type of nerve damage that can cause tingling, pain, or numbness in the hands and feet. In both groups, the risk was significantly higher in T allele carriers, even after accounting for other risk factors.

The study also found that people with the T allele had higher levels of oxidized LDL, a marker of oxidative stress. This means their bodies had a harder time fighting off damaging molecules.

Another study investigated the link between the GPX1 gene variant rs1050450 and ovarian cancer risk among Turkish women. The research involved 90 women diagnosed with ovarian cancer and 90 healthy controls. Results showed that women with the CC genotype (two C alleles) of the GPX1 variant had a lower risk of ovarian cancer. In contrast, those with the TT genotype had about three times higher risk. The presence of the single T allele was also associated with increased cancer risk. This study suggests that the rs1050450 variant in the GPX1 gene may influence ovarian cancer susceptibility in Turkish women, with the CC genotype potentially offering some protection and the TT genotype linked to greater risk.

Both studies show these findings suggest that reduced GPX1 activity due to the T variant may weaken the body’s antioxidant defense, making individuals more vulnerable to diseases related to oxidative damage. More research is needed, but these findings highlight how this gene could play a role in long-term health.

Understanding this helps us recognize how small changes in our genes like the rs1050450 SNP in the GPX1 gene may affect our body’s ability to handle oxidative stress. 

What Can You Do If You Have the  C599T Variant?

Even if you carry the T allele of the GPX1 gene variant C599T (rs1050450), there are things you can do to support your antioxidant system. Some nutrients can help either by supporting GPX1 directly or by acting as antioxidants on their own. Let’s explore what might help:

  • Glutathione: Since GPX1 needs glutathione to do its job, having enough of it is essential. Glutathione supplements can help in two ways. They support the GPX1 enzyme so it works properly. Glutathione also fights oxidative stress on its own, even without GPX1.
  • Vitamin C: This is one of the most well-known antioxidants. It helps protect cells from free radical damage and can be especially helpful for people with lower GPX1 activity.
  • Vitamin E: A vitamin known to protect the body from lipid-based free radicals, which are harmful fats that damage cells. If your GPX1 isn’t working at full strength, vitamin E can help fill the gap.
  • Vitamin A: Like vitamin E, vitamin A is especially good at targeting lipid-derived oxidative stress. It can help protect your cells if GPX1 is less effective because of the T allele.

References:

Risks of Sharing DNA with Genetic Testing Sites

Aira on August 16, 2024

Risks of Sharing DNA with Genetic Testing Sites

Nowadays, many consumer DNA testing companies promise to reveal everything from personal traits to health predispositions to other secrets hidden in your DNA. 

There is nothing more sensitive than your genetic information, and uploading your raw data or taking a test entails sharing your personal genetic information with other DNA sites. 

It’s important to understand how your DNA data might be used by these companies, and how you can prevent your DNA information from being stolen, or shared with others without your consent.

Read on to learn more about the risks involved with uploading your genetic information using DNA sequencing tools.

How Law Enforcement May Get Access To Your Genetic Information

Consumer genetic databases, particularly the ones that offer free genetic testing, may be used by law enforcement for police investigations.

In 2018, GEDMatch, a free-to-use genetic service, gave law enforcement officials access to user records to help in the investigation of murders and sexual assaults, unless users opted out.

In the same year, FamilyTreeDNA made some modifications to its terms of service in order to allow law-enforcement use in cases of “violent crimes.”

Nowadays, it is suspected that some companies that offer DNA analysis for free might actually be run by law enforcement agencies, which means that your information might be easily accessible for solving criminal cases. 

However, it is important to take note that there are reputable companies that still take your privacy as their top priority, and have strict policies on how to protect your information.

23andMe and Ancestry, for example, have kept their ground in not releasing any customer data to law enforcement. 

LifeDNA, in particular, is one of the companies that value users’ privacy in relation to potential law enforcement requests. Please check out our Privacy Policy to learn more about how we protect your data.

While these reputable businesses choose to fight demands from law enforcement by using all available legal and administrative means, they may still be required by law to comply with a legitimate court order, subpoena, or search warrant for genetic or personal information.

Have you already taken a DNA test with 23andMe? Use your results to unlock more powerful information into you health and well-being. See LifeDNA plans here. 

Is Your DNA At Risk From Cyber Attacks?

Certain DNA testing websites do not have stringent security measures, making their system more susceptible to a data breach. 

In 2017, researchers at the University of Washington discovered indications of poor security practices utilized in many open-source DNA sequencing tools. 

The study identified known security flaws that could enable unauthorized parties to acquire control of computer systems, potentially letting them steal your personal information or even alter DNA results.

Some of the DNA test companies that had cases of security breach in the past include MyHeritage, GedMatch, and Veritas Genetics. 

There are people out there who would want to steal your data. That’s why it is important to know how these companies protect your DNA information against cybersecurity risks.

 

At LifeDNA, the safety of our users’ information is our top priority. Your DNA is encrypted, safe, and secure. 

We never had a data breach in our system, and we regularly check our security measures in order to keep DNA information protected at all times. 

Already taken a DNA test with 23andMe, Ancestry, or other genome sequencing tools? Upload your DNA and gain insights into your health and wellness. See LifeDNA plans here.

Do not let other people steal your DNA information.

Your DNA is the blueprint of your life, and we, at LifeDNA, stand by you in keeping your DNA safe and secure. 

We do recommend that you go for companies that you can trust and that can protect your data. 

Check out this article to learn more about how you can protect your DNA data.

*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.

Nutritional Genetic Testing: Understanding your carbohydrate metabolism

Aira on August 16, 2024

Nutritional Genetic Testing

Ever wonder how your body converts the food you eat and the beverages you drink into energy? It takes a village and then some. Metabolism is the complex chemical or metabolic process in which several systems of the body work together to combine calories and oxygen to create and release energy. This converted energy then fuels your body’s basic functions like moving, breathing, blood circulation, and digestion.

Understanding how your metabolism works can be synonymous with understanding what your body needs in order to function well. Simply put, a good metabolism equals part of maintaining a healthy body. However, your food intake is not the only thing that affects your metabolism. According to studies, your DNA can also affect your metabolism. Your genetic makeup can tell you how much or how little food intake you need to maximize its conversion into energy.

Using genetic testing for nutrition like the one LifeDNA provides can help you know more about your body’s metabolic process based on your genetics.

Why are carbohydrates important for healthy diet?

While many hear the word “carbs” and just about run away, contrary to popular belief, carbohydrates are not necessarily your enemy. Except when you mostly get them from processed food and drinks with calorie-dense ingredients and less nutritional value, then they can cause health problems in the long run.

In fact, carbohydrates are one of the three macronutrients that the human body needs, along with fat and protein. Carbohydrates play a vital role in your body as they provide several services including acting as an energy source and helping control blood glucose and insulin production.

Carbs don’t just mean pasta and bread, though; it is an encompassing term for all food that contains sugar molecules. These include fruits, vegetables, fibers, legumes, and sugar. Technically speaking, you can’t really “cut out” carbs; you can only choose certain subsets that are the healthier option.

Nutritional Genetic Testing

Genetic testing for nutrition: How DNA can affect carbohydrate metabolism

Digesting carbohydrates can be a different process from one individual to the next. While you may find yourself on the luckier side and have a faster metabolic rate, the same might not hold true for others around you. Some people can ingest large amounts of carbohydrates without the usual side effects such as weight gain and gastrointestinal problems. Others are more sensitive and noticeably gain weight the more carb intake they have.

Carbohydrate metabolism is the complex process in which the body breaks down your carb intake into fuel for energy. There are several types of carbohydrates, thus, the process of breaking them down also differs.

Simple carbohydrates are typically processed sugars that are more easily digested by the body. While some food and drink have natural sugars such as the lactose in dairy and fructose in milk, unnecessary added sugar like corn syrup and sucrose are found on many grocery shelves all over the world. Complex carbohydrates, on the other hand, are digested more slowly and can therefore provide more stable energy for your body in the long run.

Genetic testing for nutritional needs can provide you with more insight into what types of carbohydrates work well with your body based on your genetics.

Nutritional Genetic Testing

Genetic Testing for Personalized Nutrition

If your body is more likely to have a faster metabolism, chances are that your carbohydrate metabolism is also good. Improving your metabolism can be done via proper diet and exercise but it is best to keep in mind that these factors are not the only ones you should consider. Your genetic variation can also tell you how your body processes carbohydrates.

Using a personalized nutrition test, your results can tell you how well your body responds to carbohydrate intake. This can help you with your nutrition goal, whether that’s weight management, lowering your blood sugar levels, or simply maintaining a healthy body.

*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.

DNA and Skincare: The Genetics of Psoriasis

Aira on August 8, 2024

Many skin conditions plague millions of people all over the world. Some of them are more serious than others, causing changes in lifestyle and the quality of life of the individual who has them. One of the most common skin conditions is psoriasis. Although technically, psoriasis is an autoimmune disease, its effects are most commonly seen in a person’s physical appearance. 

 

Psoriasis has a high likelihood of being hereditary, meaning that genetics play a role in the development of this disorder. Genetic testing for psoriasis can help you determine whether you are at risk or not. LifeDNA offers full and comprehensive information about your skincare and its relationship with your genetic variation. 

Psoriasis and Other Genetic Skin Traits

Psoriasis can cause inflammation, redness, and itchy scale-like scabbing on the skin, scalp, knees, elbows, hands, feet, and other parts of the body. As your body produces new skin cells, the immune cells in your blood mistake them for foreign invaders and attack these new skin cells which causes an overproduction of new skin cells beneath your skin. They force out the existing skin cells which results in scabbing and a scale-like appearance of the skin. 

 

According to studies, genetics play an important role in determining if a person will develop psoriasis or not. While there are cases wherein a person with psoriasis has no family history of the disease, the likelihood of developing it goes up to 50 percent if one or both parents has a history of the autoimmune disorder. 

 

Psoriasis is also more commonly seen in adults compared to eczema which is often diagnosed in children. The two can be very similar in symptoms so a dermatologist may need to run multiple tests to be sure. Excessive stress and allergens can also be contributing factors to developing psoriasis. 

 

Other skin conditions can also be genetic. Some of them can cause extreme pain or discomfort and affect an individual’s self-esteem. Knowing more about DNA skincare can help you manage these conditions or prevent them from developing.

Life DNA

Acne

A common skin condition mostly seen as a dilemma for teenagers and young adults, acne may vary in severity. When the skin produces too much sebum, your follicles can clog and pimples may form. These pimples may multiply and be inflamed for a period of time. Acne can be uncomfortable but is highly treatable.

Facial Wrinkles

As the dreaded evidence of aging, wrinkles are considered an enemy of many people. They can be the result of lifestyle, sun damage, smoking, excessive alcohol, and genetics. They appear as fine lines and skin furrows, giving the skin an “old-weathered” look. 

Varicose Veins

Varicose veins (VVs) commonly appear on the legs. They are swollen and twisted veins that can be a pain both medically and aesthetically. They can cause swelling of the legs and feet as well. While not usually painful, they can cause muscle cramps, swelling, and itching. 

Rosacea 

A chronic condition, rosacea is an inflammatory skin condition. It primarily affects areas of the face such as the cheeks, forehead, nose, and chin. It is most common and evident in fair-skinned people because they cause the skin to appear red, flushed, and sometimes a bit swollen. While not curable, rosacea is manageable with certain topical and oral medications.

 

Want to know more about your genetic likelihood of developing psoriasis and unlock personalized skincare suggestions to help prevent and manage this condition? Unlock LifeDNA’s DNA skincare report today. 

Personalized Beauty Insights from LifeDNA’s DNA Skincare Test

Life DNA

Skincare is one of the most popular and valuable industries in the world today. There are thousands upon thousands of beauty and cosmetic companies that produce millions of skincare products. If you suspect you are prone to certain skin conditions due to your genetic variation, try a skin DNA test. 

A skincare routine will highly depend on your skin’s suitability. Genetics will also play an important role in managing certain skin conditions and even influence their development in the first place. Want to get reveal your most beautiful complexion based on personalized skincare insights? Try LifeDNA today. 

*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 Genetics of the Marfan Syndrome

Aira on July 14, 2024

Heart illustration showing the impact of Marfan syndrome on cardiovascular health, focusing on genetic mutations affecting the heart

Disclaimer: This article is for informational purposes only and is not intended for diagnostic use. LifeDNA does not provide diagnostic reports on any traits discussed. Genetics is just one piece of the puzzle; please consult a healthcare professional for comprehensive guidance on any health condition.

 

Marfan Syndrome is a genetic condition that affects the body’s connective tissue. Our connective tissue provides support, strength, and elasticity to other body structures. Marfan’s syndrome can impact your skeletal and cardiovascular systems as well as your eyes. Individuals with Marfan Syndrome often have distinctive physical features such as unusually long arms, legs, and fingers, a tall and slender build, and a curved spine. 

 

The cardiovascular complications are the most serious aspect of Marfan syndrome, particularly a weakened aorta. The aorta is a large blood vessel that carries blood from the heart to the rest of the body. Without proper management, a weakened aorta can lead to life-threatening conditions such as aortic dissection or rupture. Marfan Syndrome affects about 1 in 5,000 people regardless of race, ethnicity, or gender. Early diagnosis and appropriate treatment can help manage the symptoms and prevent complications, significantly improving the quality of life for those with the condition.

Understanding the Genetic Basis of Marfan Syndrome

Marfan Syndrome is caused by mutations in the FBN1 gene, which encodes a protein called fibrillin-1. Fibrillin-1 is a crucial component of connective tissue and contributes to the formation of elastic fibers, which provide elasticity and strength to tissues and organs. 

 

The FBN1 gene mutations lead to the production of abnormal fibrillin-1 or insufficient amounts of the protein, disrupting the structure and function of connective tissues throughout the body.  Interestingly the genetic variants of this gene are  also related to other traits.

Body Height

According to a 2020 study with Peruvian participants, specific missense variant in the FBN1 gene (E1297G) is linked to shorter stature, with each copy of the minor allele that is present in 4.7% of Peruvian individuals, decreasing height by 2.2 cm, and by 4.4 cm in homozygous individuals. This is the largest known effect for a common height-associated variant. Although common in Peru, this variation is absent in European populations.  In a 2020 article, The Broad Institute labeled this as the most powerful genetic variant associated with height, discovered to date. Interestingly individuals affected by Marfan’s syndrome, who typically dont have the E1297G mutation, are characteristically much taller than the rest of their family members.

Eye Health

Variations in the FBN1 gene have also been implicated in eye health. A 2020 GWAS identified FBN1 among other genes like BMP7, COL6A1, and THBS4 that play significant roles in the organization of the structural support that surround cells (a.k.a extracellular matrix). FBN1’s role in the structural integrity of this matrix makes it crucial for both overall growth and the specific development of connective tissues. The study underscores the gene’s importance by linking it with genetic variants that influence eye size and development, particularly corneal curvature and axial length, which are critical for maintaining proper vision.

 

You may also like: The Genetics of Visual Acuity

Blood Pressure

A 2011 meta-analysis suggested a significant link between the SNP rs140598 in the FBN1 gene and essential hypertension. A more recent association study conducted in the Chinese Han population uncovered several other potential markers connecting FBN1 gene and blood pressure. Researchers examined four tagging SNPs in 2,012 hypertension cases and 2,116 controls. Significant associations were found between hypertension and SNPs rs17361868, rs668842, and rs11635140, with variations observed across different factors such as age, gender, smoking, and drinking status.

How is Marfan Syndrome Inherited?

Marfan Syndrome is inherited in an autosomal dominant pattern. This means that one copy of the mutated FBN1 gene, inherited from one affected parent, is enough to cause the disorder. Each child of an affected parent has a 50% chance of inheriting the condition. The disorder does not skip generations and can be equally transmitted by either parent, regardless of gender. 

 

While most cases of Marfan Syndrome are inherited from a parent who has the condition, approximately 25% of cases result from a spontaneous mutation in the FBN1 gene, with no previous family history. These spontaneous mutations occur randomly and are not inherited from the parents. Genetic counseling is recommended for individuals with Marfan Syndrome who are considering starting a family, as it provides valuable information on the risks of passing the condition to offspring and the implications for family planning.

How Is Marfan Diagnosed?

Diagnosing Marfan Syndrome involves a comprehensive approach that includes a detailed medical history, physical examination, and a series of specialized tests. Physicians look for characteristic features of Marfan Syndrome such as skeletal abnormalities (e.g., long limbs, scoliosis), cardiovascular issues (e.g., enlargement of the aorta), and eye problems (e.g., lens dislocation). Imaging tests like echocardiograms, which visualize the heart and aorta, are crucial in identifying potential cardiovascular complications. 

 

Genetic testing can confirm the diagnosis by identifying mutations in the FBN1 gene. However, a clinical diagnosis is often made based on the presence of a combination of symptoms and family history, even if genetic testing is inconclusive. The Ghent criteria, a diagnostic tool, helps clinicians evaluate these signs and symptoms systematically. Early and accurate diagnosis is essential for initiating appropriate management strategies to prevent severe complications associated with the condition.

Management Methods

Managing Marfan Syndrome involves regular monitoring and a multidisciplinary approach to address the various systems affected by the disorder. Cardiovascular management is crucial, focusing on regular echocardiograms to monitor the size and function of the aorta. 

 

Medications such as beta-blockers or angiotensin receptor blockers are commonly prescribed to reduce stress on the aorta and slow its enlargement. In severe cases, surgical intervention may be necessary to repair or replace the aorta. Orthopedic interventions, including physical therapy and sometimes surgery, help manage skeletal issues like scoliosis. 

 

Regular eye examinations are important to monitor and correct lens dislocation or other vision problems. Lifestyle adjustments, such as avoiding contact sports and heavy lifting, help reduce the risk of aortic complications. Genetic counseling provides support and information for affected individuals and their families. With vigilant management, many people with Marfan Syndrome can lead active, productive lives while minimizing the risk of serious complications.

References

  1. https://medlineplus.gov/genetics/condition/marfan-syndrome/
  2. https://www.nature.com/articles/s41586-020-2302-0
  3. https://www.broadinstitute.org/news/most-powerful-gene-variant-height-discovered-date
  4. https://pubmed.ncbi.nlm.nih.gov/21331051/
  5. https://link.springer.com/article/10.1007/s11033-014-3078-9



Estimating Biological Age Using Circulating Biomarkers

Catherine on July 9, 2024

Close-up image of a DNA strand, symbolizing the role of genetic and circulating biomarkers in estimating biological age

Disclaimer: This article is for informational purposes only and is not intended for diagnostic use. LifeDNA does not provide diagnostic reports on any traits discussed. Genetics is just one piece of the puzzle; please consult a healthcare professional for comprehensive guidance on any health condition.

A 2023 UK Biobank (UKB) based study published in the journal Communications Biology focuses on enhancing the estimation of biological age. Biological age is the equivalent age within the same-sex population corresponding to an individual’s mortality risk, with values ranging from 20 years younger to 20 years older than chronological age. This practical and cost-efficient method provides an accessible way for the general population to estimate an improved measure of biological age using readily available blood markers. In this article, we will explore various aspects of the study and examine its implications for us.

Biological vs. Chronological Age

Biological age and chronological age are two different concepts used to measure aging and health status:

Chronological Age

It is the actual time a person has lived, measured in years from birth. Chronological age does not account for the variability in health, vitality, or physiological state among individuals of the same age.

Biological Age

Biological age, also known as physiological age, reflects the condition of an individual’s body and overall health based on various biomarkers and physical characteristics. It considers factors such as the condition of cells, tissues, and organs. Lifestyle choices, diseases, and overall health can influence it. For example, a 50-year-old with a healthy lifestyle and minimal disease may have a biological age of 40, indicating their body functions more like that of an average 40-year-old. It helps estimate how much aging has affected an individual’s body and is often associated with the extent of risk of age-related diseases and mortality.

In a retrospective analysis of 2950 critically ill adults, those who were biologically older than their actual age had a significantly higher risk of mortality. This increased risk was especially pronounced in patients with chronic conditions such as cardiovascular disease, renal failure, or diabetes, and persisted even after accounting for the severity of illness and comorbidities.

A 2023 research study identified 35 modifiable factors significantly associated with the age gap, including pulmonary function, body mass, grip strength, and metabolic rate. Genetic analysis highlights CST3 as a key gene in biological aging, suggesting new preventive strategies and therapeutic targets for aging-related conditions. The protein encoded by CST3Cystatin C,is commonly used as a biomarker for kidney function, as its levels are relatively constant and not significantly influenced by factors such as muscle mass, making it a more reliable indicator of glomerular filtration rate than creatinine. Additionally, Cystatin C  has been associated with various health-related outcomes, including cardiovascular disease, neurodegenerative disorders, and metabolic conditions.

UKB Study Background

Biological age is estimated through its impact on mortality- the ultimate measure of biological and functional decline. The current challenge lies in accurately estimating biological age. A more accurate estimate can help evaluate the effectiveness of aging interventions and improve predictions of age-related conditions. Over the years, various biomarkers have been used to estimate biological age. Some popular biological age biomarkers are telomere length, DNA methylation, wearable sensor data, and blood-based clinical biomarkers. 

Blood biomarkers, in particular, have advantages in terms of cost and scalability compared to omics-based estimates like telomere length and epigenetic clocks. Despite these benefits, blood-biomarker-based biological age estimation studies are limited and require further validation. This study addresses this gap by utilizing a large dataset of 306,116 participants from the UK Biobankof ages38 to 73, with a mean age of 56.3 years, and an overall mortality rate of 6.1%.

The researchers in this study employed machine learning techniques. They demonstrated that predictive accuracy remains high even when fewer biomarkers were included in imputation techniques. The final model estimated biological age values ranging from 20 years younger to 20 years older than chronological age, demonstrating a practical and cost-efficient method for assessing biological age accessible to the general population.

Machine Learning Models Used to Study Biological Age

Let’s digress a little and briefly review some common machine learning models used in the study of biological age so that we can understand the true significance of the study.

Elastic-Net Penalized Cox Proportional-Hazards Model: This model uses two regularization techniques to improve prediction accuracy by balancing simplicity and complexity. It helps predict how long people will live on the basis of their blood test results.

Random Survival Forest (RSF): This model uses many decision trees working together to predict survival outcomes, capturing complex patterns in the data to estimate biological age.

PhenoAge Model: This model uses blood test results to estimate biological age by predicting our dying risk. This helps understand how old a person’s body is compared to their age.

Gradient-Boosted Trees: This method builds several decision trees one after another, each correcting the mistakes of the previous one, to make more accurate predictions about a person’s biological age based on their health data.

Note: A decision tree is a popular tool used in machine learning. It makes decisions by splitting data into branches based on different criteria, resembling a tree structure, to reach conclusions.

 

This year (2024), The Department of Big Data in Health Science School of Public Health in China, published a paper describing the development and validation of a new measure of biological age, called Balanced-AGE, using physical health examination data from the Chinese population. This tool was effective across various subgroups, including diverse ages, sexes, as well as smoking, and alcohol consumption statuses. The study also found that underweight individuals, smokers, and drinkers experienced higher age acceleration, suggesting that Balanced-AGE could be a valuable tool for health assessment and management in the elderly population.

UKB Study Results

This analysis demonstrates that circulating biomarkers can form the basis of an accurate and low-cost measure of biological age through a simple formula. The study used an Elastic-Net-derived model with 25 biomarkers to estimate biological age, showing a range of 20 years younger to 20 years older than chronological age. This model outperformed the PhenoAge model, with an 11% increase in predictive value, attributed to the large training dataset and the inclusion of biomarkers like cystatin C and red blood cell distribution width. The model’s real-world applicability is underscored by its ability to maintain predictive accuracy even with imputed values for unmeasured biomarkers, making it practical for varied clinical settings.

This  study not only aligns with existing research on biological age estimation but also emphasizes practical value. Aging clocks can be cost-effectively implemented using commonly available blood tests. The analysis showed that the model could distinguish between high-risk and low-risk individuals, even among younger and healthier populations. Despite limitations like the UK Biobank’s healthy volunteer bias and homogeneous population, the model’s performance suggests it can generalize beyond the UK. The findings highlight the importance of identifying biological aging to inform interventions that maximize health span and reduce healthcare pressures in aging populations.

Reference

  1. https://link.springer.com/article/10.1007/s11739-023-03397-3#:~:text=Biological%20age%20is%20increasingly%20recognized,admission%2C%20can%20predict%20hospital%20mortality.
  2. https://onlinelibrary.wiley.com/doi/full/10.1111/acel.13995
  3. https://www.sciencedirect.com/science/article/pii/S2589004224001123
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