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If you are concerned about your sexual health, โ€œscabiesโ€ must already be on your radar. When it comes to sexually transmitted diseases, AIDS, Chlamydia, and Syphilis are all some familiar names we come across. However, research suggests that even though scabies is a skin condition, it can be passed through sexual contact, prompting the question, is scabies an STD?

Did You Know? Certain gene changes influence your risk for various skin conditions like dermatitis, acne, psoriasis, etc. Learning about this genetic risk can help customize your skincare and elevate your skin health.

Get Insights On Your Skin Health From your 23andMe, AncestryDNA Raw Data

What Is Scabies?

Scabies is a highly contagious skin disease.

It is an intensely itchy skin condition caused by a type of mite.

It spreads through physical contact within families, schools, or nursing homes.  

What Causes Scabies?

Scabies is caused by a tiny mite called Sarcoptes scabiei.

When this mite reproduces, it lays eggs under the surface of human skin.

When these eggs hatch, the new mites crawl on the skin, making new burrows. 

It causes intense itching, which increases at night.

Scabies mites are found in the genital area, on the wrists and elbows, underneath the arm, on the stomach, feet, and ankle. 

Signs and Symptoms of Scabies

The most common symptoms of scabies are:

These symptoms show up three to six weeks after initial infection.

However, if you have had scabies previously and got reinfected, you might start showing symptoms immediately. 

infographic on scabies. divided into 3 columns separated by a black line.

Is Scabies an STD?

Yes, scabies is considered an STD as it can spread by sexual contact.ย  But scabies can also apply by nonsexual routes.

Furthermore, unlike other STDs, barriers like condoms or dental dams don't guard against scabies.

Can It Be Transmitted Only Through Sexual Contact?

Scabies can also be transmitted without sexual contact.

People can get scabies by being in close contact with an infected person. 

You can also get infected if you share bedding or clothing with an infected person. 

Poor personal hygiene can make you more prone to getting a scabies infection. 

What Is Crusted Scabies, And Is It An STD?

Crusted or Norwegian scabies is a severe form of scabies infestation.

Typically, a host has no more than 10-15 mites on their body.

But in crusted scabies, people can have hundreds of mites crawling under their skin, causing extreme itching.

The rashes are more prominent and look like crusted patches of skin that crumble when touched.

People with weakened immune systems usually suffer from crusted scabies.

Usually, older people and children, people suffering from an immunosuppressive disorder such as AIDS, suffer from crusted scabies. 

However, it can also spread by hugging or being in close contact with an infected host.

How Else Does Scabies Spread? Is It Contagious?

Scabies is highly contagious and spread through skin-to-skin contact.

The most common form of scabies transmission is sexual contact. 

However, scabies can also spread in nonsexual contact, such as:

You are more likely to get scabies from sustained skin-to-skin contact with a person. 

Usually, a simple handshake does not transmit scabies.

Can Pets Spread Scabies?

Pet animals cannot spread human scabies. 

Pets can be infected with another type of scabies mite that usually doesnโ€™t infect humans.

How Long Is Scabies Contagious?

Scabies mites can live on a host for 1-2 months.

They are contagious during this period.

Even after treatment, the itching and discomfort might last longer.

However, scabies cannot live for more than 48 hours off the host.

Mites die above 50 degrees Celsius. 

Is Scabies An STD? Infographic explains the possible modes of transmission of scabies. Divided into 4 columns, each column explains 1 route of transmission with a graphic and some text

Diagnosis, Management, And Treatment

A simple physical exam can diagnose scabies.

Your doctor might also perform ink tests and tissue biopsies to detect scabies. 

Scabies can be treated with overnight creams or lotions.

Your doctor will advise you how to use these treatments. 

The itch may be persistent, and antihistamines can help.

How To Prevent Getting Scabies?

Can Scabies Live In A Mattress?

Scabies can survive on mattresses or other inanimate objects for 2-3 days.

You can kill them with a vacuum or use high-temperature steam.

Avoiding Scabies Reinfection

Summary: Is Scabies An STD?

Scabies is considered an STD as the condition can spread through sexual contact.

It is caused by a mite that lives and burrows under human skin.

Scabies can also spread by casual physical contact, such as shaking hands or living with an infected person.

Practicing good personal hygiene habits and avoiding close contact with infected people are some ways to avoid scabies.

References

https://www.healthline.com/health/is-scabies-an-std

https://www.cdc.gov/parasites/scabies/index.html

https://www.who.int/news-room/fact-sheets/detail/scabies

When it comes to a balanced diet, most people only focus on the macronutrients and dismiss the equally important trace minerals. One such micronutrient is selenium. This trace mineral plays a role in various functions of the body and is especially important for women. From aiding in increasing estrogen levels to improving fertility and preventing pregnancy-related complications, maintaining adequate levels of selenium will help women stay healthier physically and mentally. This article will take you through seven science-backed selenium benefits for women and also go on to suggest the best food sources to consume recommended levels of the mineral. 

Did You Know? Your genes influence how much your body absorbs and utilizes selenium from food. Certain gene changes can increase your risk for selenium deficiency. Learn more.

How Does Selenium Intake Influence Cancer Risk?

What Is Selenium?

Selenium is a rare mineral found in the earthโ€™s crust.

Plant sources that grow in regions where the soil is rich in selenium absorb this mineral.

Animals that graze on these plants end up ingesting selenium.

As a result, many plant and animal-based foods that humans consume have traces of selenium.

What Role Does It Play In The Body?

Selenium plays a role in many everyday functioning of the body, including the following.

How Much Selenium Does A Woman Need?

According to the National Institute of Health, the following are the recommended dietary allowance of selenium for women.

AgeRecommended amount of selenium (mcg)
0-6 months15
7-12 months20
1-3 years20
4-8 years30
9-13 years40
14+ years55
Pregnant women60
Lactating women70

What Does Selenium Do To A Woman's Body?

While the right amounts of selenium benefit both men and women, this trace mineral may be especially favorable for women because of its ability to boost estrogen.

Does Selenium Boost Estrogen?

Estrogen is the primary female hormone responsible for developing female sexual characteristics in women.

Low estrogen levels may increase the risk of certain cancers, heart diseases, osteoporosis, and insomnia.

Low estrogen levels may also cause vaginal dryness, mood swings, hot flashes, and night sweats.

For estrogen to be helpful to the body, it needs to be broken down into various other compounds that the body uses.

Selenium helps the liver break down estrogen into usable forms.  

7 Selenium Benefits For Women

May Lower Heart Disease Risk

Adequate selenium intake may reduce the risk of heart disease.

A 2006 meta-analysis analyzed the effects of selenium on coronary health in 25 observational and six randomized trials. 

The study reported that selenium concentrations were inversely proportional to heart disease risks. 

A 2016 meta-analysis of 16 observational and 16 randomized control trials also reported similar results. 

May Improve Breast Cancer Survival Rates

Lower selenium levels are associated with decreased survival rates after a breast cancer diagnosis. 

A 2021 study analyzed the relationship between selenium levels and ten-year survival rates in women diagnosed with breast cancer. 

This study reported that the cumulative 10-year survival rate for women with lower serum selenium levels was 65.1%.

In comparison, the 10-year cumulative survival rate of women with higher serum selenium levels was 86.7%. 

May Reduce Oxidative Damage

Free radicals are found in the atmosphere and are also byproducts of metabolic processes.

Excess free radicals cause oxidative stress and damage the body's cells.

Cell-level oxidative damage causes various diseases, including inflammation, premature aging, Alzheimerโ€™s, heart conditions, and cancers.

Selenium has antioxidant properties and helps protect against oxidative damage.

May Improve Thyroid Health

Selenium is essential for thyroid health. 

This trace mineral plays a role in the production of thyroid hormones. 

A 2015 cross-sectional observational study analyzed the effects of selenium levels on thyroid function in 6,152 participants in China.

According to the study, low serum selenium levels increased the risk of thyroid diseases. 

May Improve Mental Health

According to the U.S. Department of Health and Human Services, one in five women experience a mental health condition such as depression, anxiety, or bipolar disorder.

A 2022 article on selenium and mental health states that the anti-inflammatory properties of selenium may help handle signs of depression.

Selenium may help manage various mental health conditions by regulating the thyroid hormones. 

Brain-Derived Neurotrophic Factor (BDNF) is a protein that plays a role in brain neuron growth, maintenance, and development. 

Low BDNF level is associated with various mental and neurological issues, including cognitive dysfunction, depressive disorders, Alzheimerโ€™s disease, and Parkinsonโ€™s disease.

An older study on rodents reports that low selenium levels may lead to low BDNF levels in the brain and affect mental health. 

May Boost Immunity 

Studies report that selenium plays a role in bringing down inflammatory responses in the body and improving adaptive immune responses. 

Selenium deficiency may lead to slower immune response and abnormal immune cell functions. 

May Improve Female Fertility

While many studies relate adequate selenium levels to improved male fertility, this trace mineral also seems to have similar effects in women.

A 2022 systematic review reports that selenium supplementation may improve reproductive efficiency in women undergoing in-vitro fertilization treatments.

The same report also adds that maintaining the right selenium levels may prevent problems like preeclampsia and preterm birth in pregnant women.

Selenium benefits for women: 6 icons surrounding the text "selenium," each of which indicate a benefit of this mineral

Does Selenium Pose Any Health Risk?

According to the U.S. Department of Health, the tolerable upper intake limit of selenium for adults over 14 is 400 ฮผg/day. 

This is the maximum dose people can consume without dangerous side effects.

Consuming extremely high doses of selenium may lead to toxic effects.

Selenium Toxicity

According to experts, both acute and chronic ingestion of high quantities of selenium can cause toxicity.

A 2008 PMC article discusses the potential outbreak of selenium toxicity by a manufacturing company in 2008.

The affected people consumed a dietary supplement that contained 200 times more selenium than what was mentioned on the label.

The following were the symptoms recorded in the 201 identified cases of selenium toxicity.

SymptomsPercentage of people with selenium toxicity
Diarrhea 78%
Fatigue75%
Hair loss72%
Joint pain70%
Brittle nails and nail discoloration61%
Nausea58%

Food Sources Of Selenium

Seafood and organ meat are some of the richest sources of selenium.

Some grains and other plant-based food also contain adequate amounts of minerals.

Sources of seleniumMicrograms/serving 
Brazil nuts544
Tuna 92
Sardines45
Ham42
Shrimp40
Beef33
Chicken22
Brown rice19
Egg15
Milk 8
Spinach5
Cashew nuts3

Table source: https://ods.od.nih.gov/factsheets/Selenium-HealthProfessional/ 

Supplements For Selenium Benefits For Women: An Overview

Selenium offers various benefits to women of all ages. 

Selenium-deficient women should talk to their doctor and consider supplementing the mineral orally. 

The following categories of women are at a higher risk of selenium inadequacy.

They may also benefit from oral selenium supplements.

Those with adequate levels of serum selenium can maintain or improve the numbers by carefully choosing a diet rich in selenium. 

Including seafood, organ meat, and Brazil nuts regularly will help improve serum selenium levels.

Here's An Interesting Read For You:

How Genes Influence Selenium Requirements

Selenium Genetic Test

The Gene Nutrition panel of Xcode Life includes 47 important nutritional aspects. 13 significant markers are analyzed for selenium needs.

If you have done an ancestry genetic test with companies like 23andMe, AncestryDNA, MyHeritage, etc., you can learn your selenium deficiency risk gene status in just 3 steps.

  1. Download your DNA raw data from your service provider
  2. Add the โ€œGene Nutritionโ€ report to your cart (or the Xcode Life Genome Pack for a 48% discount)
  3. Upload your raw data and receive your results within 24 hours.

No DNA Test? No Problem

Not yet tested?

If you're new to the world of genetic testing, we've got you covered! 

You can now get your ancestry DNA kits at an additional discount!

By following the link provided in this article, you can purchase a DNA kit at 10% OFF (the discount will be reflected when you add the product).

This will ensure that you have everything you need to embark on your genetic journey.

  1. 23andMe Ancestry Kit
  2. 23andMe Health + Ancestry Kit
  3. AncestryDNA Kit (currently no additional discount available)

Once you receive your kits, you can follow the instructions given by the respective service providers to collect your sample and ship it.

After you receive your DNA test results from the kit, you can upload your DNA data to our secure platform.

Summary: Selenium Benefits For Women

  1. Selenium is a trace mineral that the body needs to perform various functions. Selenium is essential for women to protect their physical and mental health.
  2. Adult women need about 55 micrograms of selenium daily to maintain adequate mineral levels.
  3. Selenium helps break down estrogen in the body into usable forms. Low selenium levels may lead to low estrogen levels in women.
  4. Selenium helps reduce the risks of heart disease and cancer. It also improves thyroid health and mental health.
  5. Selenium is also proven to improve female fertility, reduce asthma severity, and improve immunity.
  6. Extremely high doses of selenium can be toxic and cause nausea, vomiting, diarrhea, nail discoloration, and hair loss.
  7. The top sources of foods high in selenium are Brazil nuts, sardines, ham, tuna, shrimp, beef, and chicken.
  8. Women who are selenium deficient or inadequate may benefit from consuming oral supplements of the mineral after discussing it with their doctors.

References

https://academic.oup.com/jcem/article/100/11/4037/2836081

https://pubmed.ncbi.nlm.nih.gov/19033020/

https://pubmed.ncbi.nlm.nih.gov/25990689/

https://pubmed.ncbi.nlm.nih.gov/16093440/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7998294/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2698273/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986464/

https://pubmed.ncbi.nlm.nih.gov/9584835/

https://www.nature.com/articles/s41598-022-05078-1

https://academic.oup.com/jcem/article/100/11/4037/2836081

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321086/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321086/

https://ods.od.nih.gov/factsheets/Selenium-HealthProfessional/

https://www.healthline.com/nutrition/selenium-benefits

https://www.webmd.com/a-to-z-guides/supplement-guide-selenium

https://www.medicalnewstoday.com/articles/287842#recommended-intake

When it comes to ovarian cancer, identifying the risk factors is crucial for early detection and prevention strategies. In this article, we delve into an intriguing area of research: is diabetes one of ovarian cancer risk factors? We investigate the scientific evidence and examine whether diabetes could influence the development of ovarian cancer. 

Genetic ancestry tests are becoming increasingly popular. While your DNA can be used to learn about your roots, did you know that it can also reveal important things about your health risks and wellness aspects? This allows you to take proactive measures for health conditions, even before the symptoms appear, thereby preventing it. You can upload your DNA data to learn 1,500+ things about your health. Learn more.

DNA Test Reveals An Important Vitamin Deficiency #shorts #genetics #dna

Understanding Diabetes 

Diabetes is a metabolic disease characterized by high blood sugar levels.

If your blood sugar levels are high but not high enough for diabetes, you may have prediabetes.

People with prediabetes are at a greater risk of developing diabetes.

However, with the right lifestyle modifications, it is possible to reverse prediabetes.

Types of Diabetes

Depending upon the cause, diabetes is of three types:

AI Diabetes: The picture talks about the different types of diabetes namely type 1 and type 2 diabetes and gestational diabetes. Each type in explained in a square container with a small text and an icon.

How Does Diabetes Affect the Body?

Glucose is the primary source of energy in the body. We get this glucose from the food we eat.

The pancreas secretes a hormone called insulin to help this glucose enter each cell in the body to generate energy.

In people with diabetes, glucose stays in the blood and is unable to reach the body cells for either of the following reasons:

Diabetes is a known risk factor for various diseases and complications.

This condition may increase your risk for kidney, eye, nerve, or heart damage.

Recent studies have also linked diabetes to some types of cancers.

Understanding Ovarian Cancer 

Cancer is a condition characterized by the excessive growth of abnormal cells in the body.

These cells form a tumor.

Ovaries are a pair of organs that produce eggs (for reproduction) in females.

When cancer affects the ovaries, it is termed ovarian cancer.

Ovarian cancer is the 8th most common cancer occurring in women.

A womanโ€™s lifetime risk of developing ovarian cancer is 1 in 78.

Ovarian cancer occurs when there are abnormal genetic changes (mutations).

Two genes known to be high risk for ovarian cancer are the BRCA1 and the BRCA2

Mutations in these genes are also associated with other gynecological cancers like breast cancer.

A global heatmap to indicate the prevalence of ovarian cancer.

Types of Ovarian Cancer

There are different types of ovarian cancer, depending on the tissue affected.

The most common type of ovarian cancer is epithelial cell cancer which begins in the cells that cover the ovary.

Other less common types of ovarian cancer are stromal and germ cell tumors.

While few ovarian cancer are benign, others are malignant.

Also Read: New Study Finds

Hysterectomy And Tubal Ligation May Increase Heart Disease Risk

Ovarian Cancer Risk Factors

While any person with ovaries can develop ovarian cancer, some are at a higher risk. 

Risk factors for ovarian cancer include:

Diabetes As A Ovarian Cancer Risk Factor

The relationship between type 2 diabetes and cancer has long been recognized.

Several studies link diabetes to an increased risk of various cancers, such as breast and endometrial tumors. 

Furthermore, individuals with diabetes facing these diseases often experience more severe outcomes. 

The impact of elevated blood sugar levels goes beyond diabetes management, as it leads to molecular changes that create a more favorable environment for tumor growth. 

These changes can result from oxidative stress, inflammation, or even the facilitation of new blood vessel formation, which provides nourishment to rapidly dividing cells.

The metabolic abnormalities in association with obesity and diabetes are said to contribute significantly to the development and progression of cancer.

This could happen due to changes in the various signaling pathways in the body that get disrupted due to high blood sugar levels.

Some alterations from diabetes that promote cancer may be permanent, lasting even after blood sugar is under control, due to a phenomenon known as โ€œmetabolic memory.โ€ 

The Common Elements Underlying Diabetes And Ovarian Cancer

4 icons each representing an element common to diabetes and ovarian cancer risk factors. Under each icon, a small text describing it is present.

Recent research has provided strong evidence linking diabetes to an increased risk of ovarian cancer

The research also suggests that there are common factors between type 2 diabetes and ovarian cancer, giving us clues about how diabetes might contribute to the development of ovarian cancer.

  1. One factor that contributes to both type 2 diabetes and ovarian cancer is obesity, which means carrying excess body weight.
  2. Another common element is increased levels of insulin, a hormone produced by the body. 
  3. Chronic inflammation, which is a long-lasting state of inflammation, is also seen in both conditions. 
  4. Additionally, there are increased activities in certain biochemical pathways that regulate metabolism and higher levels of steroid hormones in the ovaries.

Researchers have discovered that a specific biochemical pathway called STAT3, which is more active in type 2 diabetes, also plays a role in helping ovarian cancer spread. 

Another connection lies in the clinical data, which indicates that type 2 diabetes leads to higher levels of ovarian hormones that cause chronic inflammation. 

This chronic inflammation can create an environment that encourages the formation and progression of tumors. 

Moreover, the biochemical effects of diabetes can activate signaling pathways that promote ovarian cancer growth.

The side effects of diabetes can increase the levels of estrogen - research suggests that this may play a role in ovarian cancer.

Understanding these connections between type 2 diabetes and ovarian cancer can help us learn more about the risk factors and underlying mechanisms of this disease. 

Does Glucose Drive Ovarian Cancer?

According to a 2021 review, diabetes increases the risk of developing various cancers, including ovarian cancer.

Cancer cells and tumors are actively dividing cells that show abnormal growth. So, they have high energy needs.

For this reason, in people with good blood sugar control, cancer cells grow more slowly and are often self-limiting.

However, in people with diabetes, the elevated blood sugar levels can feed the energy-hungry cancer cells, thereby encouraging their growth.

The growth and progress of ovarian cancer may be glucose-driven.

A side by side comparison of the differences in glucose biochemical pathway between a normal and cancer cell
Normally, glucose is converted to pyruvate, which is oxidized into CO2 when sufficient oxygen is present. Only when there's a lack of oxygen is pyruvate converted into lactate. However, in cancer cells, even when there's sufficient oxygen, pyruvate is converted into lactate, which promotes cancer growth.

Does Diabetes Make Ovarian Cancer Treatment More Challenging?

It has been found that diabetes can complicate cancer treatment.

At the same time, some newer treatments, like targeted therapy, can trigger the development of diabetes.

This is apparent in patients at a higher risk of developing the condition.

Diabetes makes cancer treatment challenging because:

How To Keep Blood Sugar Levels At Bay To Lower Cancer Risk?

Diabetes management requires a multidisciplinary approach in people who have cancer.

Depending upon the anticancer therapy you may be on, you may require managing hyperglycemia, fluids and electrolytes, hypertension, and cardiovascular complications.

Here are some ways to keep your blood sugar levels under control to lower your ovarian cancer risk:

  1. Choose low-glycemic index foods: Opt for foods with a low glycemic index (GI), as they have a smaller impact on blood sugar levels.
    Examples include whole grains like oats, barley, and quinoa and non-starchy vegetables like leafy greens, broccoli, and cauliflower.
  2. Control carbohydrate intake: Be mindful of your carbohydrate intake and focus on consuming complex carbohydrates rather than simple sugars.
  3. Include protein and healthy fats: Incorporate lean protein sources, such as poultry, fish, tofu, and beans, into your meals. Protein can help slow down the digestion of carbohydrates and prevent sharp rises in blood sugar levels.
  4. Weight management: If overweight or obese, losing weight through a combination of a healthy diet and regular exercise can significantly improve blood sugar control.
    Weight loss can enhance insulin sensitivity and reduce the risk of developing diabetes-related complications, including cancer.
  5. Limit alcohol consumption: Limit alcohol intake or avoid it altogether, as it can raise blood sugar levels and contribute to weight gain.
    If you choose to drink, do so in moderation and always consult with your healthcare provider, especially if you have diabetes.
  6. Monitor blood sugar levels: Regularly check your blood sugar levels as advised by your healthcare provider.
    This helps you stay aware of your glucose levels and make necessary adjustments to your diet and medication if required.

Remember, these recommendations are general guidelines, and it's important to consult with your healthcare provider for personalized advice based on your individual needs and medical history.

Summary: Is Diabetes One Of Ovarian Cancer Risk Factors?

  1. Diabetes can increase the risk of ovarian cancer. Shared risk factors include obesity, high insulin levels, chronic inflammation, altered metabolism, and increased steroid hormones in the ovaries.
  2. Elevated blood sugar levels in diabetes create a favorable environment for tumor growth in ovarian cancer. This can happen due to oxidative stress, inflammation, and the formation of new blood vessels.
  3. It's important to manage blood sugar levels to lower the risk of ovarian cancer. Lifestyle changes like choosing low-glycemic index foods, controlling carbohydrate intake, staying physically active, maintaining a healthy weight, and monitoring blood sugar levels regularly can help with this.
  4. Consulting with healthcare professionals is crucial for personalized advice on managing diabetes and reducing the risk of ovarian cancer. By effectively managing diabetes and making necessary lifestyle adjustments, it may be possible to lower the risk of developing ovarian cancer.

References

Did you know that your genes can hold vital clues about your risk for certain health conditions? One such condition is familial hypercholesterolemia, a genetic disorder affecting cholesterol levels and increasing heart disease risk. In this blog post, we'll explain how familial hypercholesterolemia genetic testing can help you better understand your genetic risk for this condition. Whether you're new to genetic testing or seeking more information about your cholesterol levels, this article will be your guide.

Did You Know? Your 23andMe DNA Data includes 700,000 markers, which can be used to learn everything about your health and disease risk, including information on familial hypercholesterolemia. Learn more.

Get Actionable Health Insights From Your 23andMe, AncestryDNA Raw Data!

What Is Familial Hypercholesterolemia?

Familial Hypercholeยญsterolemia (FH) is a geneยญtic disorder. 

It causes high cholesterol levels in the blood, speยญcifically low-density lipoprotein (LDL) cholesteยญrol, commonly known as "bad" cholesterol. 

This condition inhibits the body's ability to removeยญ LDL cholesterol from the bloodstreยญam.

Consequently, it raises theยญ risk of developing cardiovascular disorders likeยญ heart attacks and strokes at a young age.

Causes

Mutations in certain genes that control cholesterol metabolism in the body are the main cause of FH. 

The LDL receptor gene (LDLR) is the most common gene affected by FH, with the apolipoprotein B gene (APOB) and the proprotein convertase subtilisin/kexin type 9 gene (PCSK9) following closely behind.

These mutations disrupt the regular activity of these genes, leading to difficulties in removing LDL cholesterol.

Symptoms

The symptoms of FH are often silent and may go unnoticed until complications arise.

Individuals with FH have high LDL cholesterol levels from birth, leading to the development of fatty deposits called plaques in the arteries.

Common signs and symptoms of FH include:

Familial Hypercholesterolemia Genetic Testing Symptoms - This image depicts the symptoms of Familial Hypercholesterolemia, including xanthomas, where high cholesterol lumps develop on the skin; tendon xanthomas, where swollen or painful tendons due to cholesterol deposits; xanthelasmas, where yellowish patches appear around the eyes and corneal arcus, where white ring develops around the cornea.

Familial Hypercholesterolemia Inheritance

FH is characterizeยญd by non-sex chromosomal or autosomal dominant nature

If one parent has the condition, the child has a 50% chance of getting it. 

This condition is commonly referreยญd to as Heterozygous Familial Hypercholeยญsterolemia (HeFH).

Familial Hypercholesterolemia Genetic Testing Inheritance Pattern

On the other hand, in Homozygous Familial Hypercholesterolemia (HoFH), both pareยญnts carry the FH gene, leยญading to a higher chance of their child eยญxperiencing this disorder.

Paul N. Hopkins, MD, a professor at the University of Utah School of Meยญdicine, highlights that males with untreateยญd HeFH face a 50% chanceยญ of experiencing a heยญart attack. 

This risk is specifically associated with reaching theยญ age of 45. 

Females may encounter this occurrenceยญ between theยญ ages of 55 and 60.

Familial Hypercholesterolemia Genetic Testing

Genetic testing for FH is crucial in diagnosing the condition, identifying affected individuals, and providing appropriate management strategies. 

The test analyzes specific genes associated with FH and detects genetic mutations that cause the disorder.

What Are The Criteria For Familial Hypercholesterolemia Genetic Testing?

The criteria for FH genetic testing vary depending on the clinical guidelines. However, some common criteria include:

Simon Broom Diagnostic Criteria for FH

The Simon Broome criteria consider a variety of parameters, including cholesterol levels, clinical symptoms, molecular diagnosis, and family history. Focusing on determining the risk of severe CHD in individuals with Familial Hypercholesterolemia, these criteria are summarised in the table below.

Diagnosis of definite FH cases
Total cholesterol levels above 290 mg/dL (7.5 mmol/L) or LDL-cholesterol levels above 190 mg/dL (4.9 mmol/L) in adultsTotal cholesterol levels above 260 mg/dL (6.7 mmol/L) or LDL-cholesterol levels above 155 mg/dL (4.0 mmol/L) in children under 16 years of age
โž•
Tendon xanthomas in a patient or a 1st-degree relative (parent, sibling, child) or in a 2nd-degree relative (grandparent, uncle, aunt)Evidence of specific gene mutations related to LDLR, PCSK9, or APOB
Diagnosis of probable FH cases
Total cholesterol levels above 290 mg/dL (7.5 mmol/L) or LDL-cholesterol levels above 190 mg/dL (4.9 mmol/L) in adultsTotal cholesterol levels above 260 mg/dL (6.7 mmol/L) or LDL-cholesterol levels above 155 mg/dL (4.0 mmol/L) in children under 16 years of age
โž•
Family history of early myocardial infarction (MI) before the age of 50 in a close relative (2nd degree) or before the age of 60 in a direct relative (1st degree)Family history of elevated total cholesterol levels > 290 mg/dL (7.5 mmol/L) in adult relatives or > 260 mg/dL (6.7 mmol/L) in children or siblings under 16)

The Dutch Diagnostic Criteria for FH

The Dutch Diagnostic Criteria provide a modified approach to the Simon-Broome criteria by adding a scoring system and considering the underlying molecular defect of Familial Hypercholesterolemia. The table below summarizes the criteria, including family history, clinical history, physical examination, LDL cholesterol levels, and DNA analysis, enabling a more comprehensive diagnosis of FH.

CriteriaScore
Family History
First-degree relative with premature coronary and vascular disease (men โ‰ค55 years, women โ‰ค60 years)1
First-degree relative with known LDL-cholesterol โ‰ฅ95th percentile for age and gender2
First-degree relative with tendon xanthomata and corneal arcus
Children aged โ‰ค18 years with known LDL-cholesterol โ‰ฅ95th percentile for age and gender
Clinical History
Patient with premature coronary artery disease2
Patient with premature cerebral or peripheral vascular disease1
Physical Examination
Tendon Xanthomas6
Corneal arcus at age โ‰ค45 years4
LDL Cholesterol (mmol/L) (mg/dL)
LDL-C โ‰ฅ 330 mg/dL (8.5 mmol/L)8
LDL-C 250 - 329 mg/dL (6.5 - 8.4 mmol/L)5
LDL-C 190 - 249 mg/dL (5.0 - 6.4 mmol/L)3
LDL-C 155 - 189 mg/dL (4.0 - 4.9 mmol/L)1
DNA Analysis
Functioning mutations in the genes LDLR, APOB, and PCSK98
StratificationTotal Score
Definite Familial Hypercholesterolemia>8
Probable Familial Hypercholesterolemia6-8
Possible Familial Hypercholesterolemia3-5
Unlikely Familial Hypercholesterolemia<3

The MEDPED Diagnostic Criteria for FH

The MEDPED Diagnostic Criteria for Familial Hypercholesterolemia use age- and relative-specific total cholesterol values. It highlights the lower diagnostic cut-off levels for total cholesterol in persons with first-degree, second-degree, or third-degree relatives when compared to the general population cut-off levels. These factors help identify people at risk for FH based on their total cholesterol levels.

Age (years)First-degree relative with FHSecond-degree relative with FHThird-degree relative with FHGeneral population 
<20220 mg/dL(5.7 mmol/L)230 mg/dL(5.9 mmol/L)240 mg/dL(6.2 mmol/L)270 mg/dL(7.0 mmol/L)
20-29240 mg/dL(6.2 mmol/L)250 mg/dL(6.5 mmol/L)260 mg/dL(6.7 mmol/L)290 mg/dL(7.5 mmol/L)
30-39270 mg/dL(7.0 mmol/L)280 mg/dL(7.2 mmol/L)290 mg/dL(7.5 mmol/L)340 mg/dL(8.8 mmol/L)
โ‰ฅ40290 mg/dL(7.5 mmol/L)300 mg/dL(7.8 mmol/L)310 mg/dL(8.0 mmol/L)360 mg/dL(9.3 mmol/L)
Note: If total cholesterol levels are above the cut-off levels, FH is diagnosed.

Why Is It Important?

Genetic testing for FH is essential for several reasons:

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How Is It Done?

Genetic testing for FH is typically conducted using a targeted approach focused on the known genes associated with the condition. 

Three genes (LDLR, APOB, and PCSK9) are known to cause FH. 

The process begins by identifying people with FH through clinical diagnosis, which includes a lipid test, physical examination, and evaluation of family history.

Once FH is confirmed in an individual, genetic testing can be extended to other family members through cascade screening. 

This approach identifies the specific genetic variant responsible for FH within the family.

Genetic testing is usually done under the supervision of a trained genetic counselor or a healthcare practitioner with skills in genetic testing.

How Much Does Genetic Testing For Familial Hypercholesterolemia Cost?

According to NCBI, the cost of genetic testing for FH varies depending on the perspective and specific circumstances. 

From the healthcare provider's standpoint, the simulation considered the direct costs of medical care.

Recently, many laboratories have introduced next-generation sequencing targeted panels for FH cases. 

These panels offer genetic testing at a cost of less than $500. 

Subsequent testing for relatives who may carry a known pathogenic variant is typically more affordable.

Their mentioned model of genetic testing for FH costs $250. 

However, it may offer free testing for relatives within 90 days as part of the cascade testing process, particularly if they are identified as close relatives of an FH proband.

**Please note that the costs mentioned may change and vary depending on individual situations, insurance coverage, and regional differences.**

Familial Hypercholesterolemia Genetic Testing Results

Individuals who undergo FH genetic testing receive precise results that provide essential data about their genetic makeup and risk of developing cardiovascular problems.

What Are The Possible Results?

The possible genetic testing results for FH include the following:

What Do They Mean?

Familial Hypercholesterolemia Genetic Testing Infographic; This picture is an overview of Familial Hypercholesterolemia with inheritance, possible genetic results, and treatment. The inheritance part with heterozygous, where one copy of the faulty gene is enough to inherit, and homozygous, where two copies of the faulty gene are required for inheritance; the possible genetic results part includes positive, negative, and variant of uncertain significance; treatment measures involves lifestyle changes of a healthy diet, medications, and LDL apheresis.

What Can You Do With The Test Results?

Access to genetic testing results enables individuals to take charge of their health and proactively make informed decisions. With FH genetic testing results, individuals can take some of the following steps:

Does 23andMe Do Familial Hypercholesterolemia Genetic Testing?

The 23andMe genetic testing service provides a specialized report called the Familial Hypercholesterolemia Genetic Health Risk Report. 

This report focuses on detecting specific genetic variants associated with FH, characterized by high LDL cholesterol levels and a higher chance of heart disease.

To access this report, individuals can undergo genetic testing by purchasing and using the 23andMe Health + Ancestry Set.

About Xcode Life Gene Health Report

The health panel of Xcode Life includes 45+ conditions. 52 significant markers are analyzed for Familial Cholesterolemia.

If you have done an ancestry genetic test with companies like 23andMe, AncestryDNA, MyHeritage, etc., you can learn your FH risk gene status in just 3 steps.

  1. Download your DNA raw data from your service provider
  2. Add the โ€œGene Healthโ€ report to your cart (or the Xcode Life Genome Pack for a 70% discount)
  3. Upload your raw data and receive your results within 24 hours.
Image showing a section of the Xcode Life health report with sample results for familial hypocholesterolemia
A snippet from Xcode Life's Gene Health Report

No DNA Test? No Problem

Not yet tested?

If you're new to the world of genetic testing, we've got you covered! 

You can now get your ancestry DNA kits at an additional discount!

By following the link provided in this article, you can purchase a DNA kit at 10% OFF (the discount will be reflected when you add the product).

This will ensure that you have everything you need to embark on your genetic journey.

  1. 23andMe Ancestry Kit
  2. 23andMe Health + Ancestry Kit
  3. AncestryDNA Kit (currently no additional discount available)

Once you receive your kits, you can follow the instructions given by the respective service providers to collect your sample and ship it.

After you receive your DNA test results from the kit, you can upload your DNA data to our secure platform.

A happy customer

I recently used xcode life to get one of their gene health reports. My experience was very good. I received the report the same morning within the time frame they stated. It was well detailed giving clear and easy to understand information and came in PDF form so it was easy to print. My personal experience has been brilliant and I would use them again.

- Ben Duncombe

What Are The 3 Possible Genotypes For Familial Hypercholesterolemia?

FH can be classified into three possible genotypes, such as:

HoFH: The most severe form of FH occurs when an individual inherits two copies of the defective gene from both parents, resulting in a specific genotype.

HeFH: The heterozygous genotype is a common and less severe form of FH. It happens when an individual acquires one copy of the faulty gene from one parent.

CeFH (Compound heterozygous FH): This genotype occurs when an individual inherits two mutated genes responsible for FH, one from each parent. It is a rare form of FH and is typically more severe than HeFH.

Overview Of Familial Hypercholesterolemia Treatment

FH treatment involves a blend of lifestyle adjustments and medication to decrease LDL cholesterol levels and reduce the risk of complications.

Here is an overview of the different treatment options for people with FH:

Lifestyle changes: Making lifestyle changes is crucial for people with FH. Lowering LDL cholesterol levels and decreasing the risk of heart disease can be achieved through these changes.

Medications: PCSK9 inhibitors and ezetimibe are alternative medications that can help people with FH who cannot reach target levels through lifestyle changes alone. Statins, the most frequently used FH medication, can also effectively lower LDL cholesterol levels.

LDL apheresis: LDL apheresis is a procedure that uses a machine to remove LDL cholesterol from the blood. It is an option for people with FH who have excessively high LDL cholesterol levels that cannot be regulated by lifestyle changes or medication.

Summary: Familial Hypercholesterolemia Genetic Testing

Familial Hypercholeยญsterolemia is a geneยญtic disorder that results in high levels of LDL choleยญsterol in the bloodstream, developing the chances of cardiovascular diseยญases. This condition occurs from mutations within geneยญs responsible for regulating choleยญsterol metabolism, namely LDLR, APOB, and PCSK9.

Diagnosing FH involves genetic testing, which analyzes specific genes associated with the condition to detect genetic mutations. There are various criteria for FH genetic testing, including cholesterol levels, family history, and specific symptoms like xanthomas and corneal arcus.

Genetic testing is crucial for early detection, family screening, and developing personalized treatment plans for individuals with FH. It is typically performed under the guidance of a genetic counselor or healthcare practitioner.

The cost of genetic testing for FH varies, but recent advancements with some labs offering testing for less than $500. Insurance coverage and regional differences can affect the cost.

Genetic testing can provide accurate information about a person's genetic makeup and risk of developing heart disease. Positiveยญ results confirm the preseยญnce of FH-associated mutations, while neยญgative results signify the abseยญnce of known mutations. VUS results require further testing or genetic counseling.

With genetic testing results, individuals can consult with healthcare professionals to develop personalized treatment plans, adopt a heart-healthy lifestyle, raise awareness among family members, and follow prescribed medications.

References

https://www.cdc.gov/genomics/disease/fh/FH.htm

https://www.heart.org/en/health-topics/cholesterol/causes-of-high-cholesterol/familial-hypercholesterolemia-fh

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2873730/

https://www.genome.gov/Genetic-Disorders/Familial-Hypercholesterolemia

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8403726/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3104361/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4217354/

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976735/

https://www.cdc.gov/genomics/disease/fh/no_known_FH.htm

Just when youโ€™re about to enjoy a beautiful sunny day outdoors, your nose starts to itch uncontrollably, your eyes become watery, and you enter a sneeze spiral. Allergies are more common than you think, with 26% of U.S. adults diagnosed with seasonal allergies in 2021. Besides this, many adults also have food allergies, pet allergies, drug allergies, etc. While there may not be a single thread connecting all these allergies, one common base for them would be genetics! Certain genes involved in immune responses underlie most allergic reactions. At-home DNA allergy tests harness the power of your genetic information to provide personalized insights into your allergic predispositions. This can pave the way for a clearer understanding of what triggers your immune system and allow you to take proactive steps toward managing your allergies more effectively.

In this article, we'll guide you through the process of getting started with an at-home DNA allergy test, offering you a simple and accessible way to unlock the secrets hidden within your genes and reclaim control over your well-being.

Genetic ancestry tests are becoming increasingly popular. While your DNA can be used to learn about your roots, did you know that it can also reveal important things about your health risks and wellness aspects? This allows you to take proactive measures for health conditions, even before the symptoms appear, thereby preventing it. You can upload your DNA data to learn 1,500+ things about your health. Learn more.

Get Insights On Common Allergies From Your 23andMe, AncestryDNA Raw Data!

New report update: The allergy report now includes a "Drug Sensitivities" section that provides insights into your risk for allergic responses to over 20 drugs.

The Genetic Basis Of Allergies

We can group several allergic conditions when discussing allergies and genetics. 

For example, asthma, atopic eczema, food allergies, and hay fever usually follow a similar pattern of genetic susceptibility (the likelihood of developing a condition).

It has also been observed that some families are more likely to be affected by allergic conditions than others.

So, children born into these families are usually more likely to develop an allergic condition.

This familial tendency to develop allergic conditions shows that these conditions have a strong genetic link (atopy).

It is essential to understand that children in atopic families will not always develop the same allergic condition as their parents.

Food Allergies

A food allergy is a reaction to food that is mediated by immunoglobulin E

This condition affects 5% to 8% of children and 1% to 5% of adults.

There is ample research and compelling evidence that food allergies can develop due to strong family history.

In fact, a child has a 7-fold increase in the risk of developing peanut allergy if they have a parent or sibling with the condition.

A few genes that have been proven to cause food allergies include:

DNA allergy test: an infographic about food allergy listing the allergens, symptoms, treatment, and preventive methods. They all illustrated as icons.

Environmental and Seasonal Allergies

Conditions like allergic rhinitis affect 10 to 25% of the global population.

Studies show that this condition develops due to an interaction between genetic and environmental factors.

Allergic rhinitis occurs on exposure to seasonal or perennial (year-long) allergens that are commonly present in our homes and outdoors.

Common environmental and seasonal allergies include pollen, grass, weeds, etc.

How Does An At-home DNA Allergy Test Work?

In general, at-home allergy tests are done using a blood sample to detect the presence of certain antibodies associated with allergies.

At-home DNA allergy tests are a little different - they may not be able to diagnose an allergy but can help you understand whether your genes predispose you to any.

For example, the HLA gene family plays a major role in immune regulation and has been significantly associated with multiple allergic reactions.

Interleukins are another class of proteins that regulate immune responses. The IL10 gene family has been associated with food allergies.

Another important one implicated in food allergies is the filaggrin (FLG) gene. 

Filaggrin is crucial for the skin barrier, and changes in the FLG gene have an association with severe eczema and peanut allergy.

Steps involved in at-home DNA allergy test

  1. DNA allergy tests focus on analyzing such genes to see if you have any changes that may increase your risk of developing allergies.
  2. Many direct-to-consumer genetic testing companies offer this information through a DNA saliva test or a cheek swab test.
  3. They extract your DNA information from the provided sample and analyze the specific genes to estimate your genetic risk for various allergies.
  4. The results are given in the form of an easy-to-read PDF report.
  5. With the help of personalized recommendations and a qualified doctorโ€™s advice, the user can take action based on the report to prevent or manage allergic reactions.

A snippet from Xcode Lifeโ€™s DNA Allergy Test Report

However, there are a few concerns regarding At-home DNA allergy tests, including:

Can Allergies Be Detected From DNA?

A DNA allergy test can determine if you have a genetic predisposition to developing allergies.

The test is helpful as it determines your likelihood of developing an allergic condition before any signs and symptoms develop.

Besides providing information about your tendency to develop allergies, a DNA allergy test also tells you about the likelihood of developing asthma, atopic dermatitis, and autoimmune diseases.

However, at-home DNA tests cannot confirm or diagnose an allergy. 

In clinical settings, only procedures like a blood test or a skin prick test can help diagnose an allergy.

Can A DNA Allergy Test Help Prevent Allergic Reactions?

Since DNA allergy tests help reveal heightened risks for certain allergic reactions, knowing this information beforehand can help avoid those particular allergens.

Even though these tests donโ€™t diagnose allergies, it helps you understand allergens you are sensitive to so you can avoid them.

However, it is also important to note that a โ€œhigh-riskโ€ result does mean you will develop an allergy.

Limitations of A DNA Allergy Test

When discussing the limitations of at-home DNA allergy tests, it's important to consider the current understanding based on scientific evidence. 

While these tests can provide valuable insights into an individual's genetic predispositions to allergies, there are certain limitations to keep in mind.

  1. They cannot definitively diagnose specific allergies or predict the severity of allergic reactions.
  2. A โ€œhigh-riskโ€ result does not guarantee developing allergies, and a โ€œlow-riskโ€ result does not eliminate the possibility of allergies. 
  3. At-home DNA allergy tests focus on genetic factors and may not account for other environmental and lifestyle factors that can influence allergies. 
  4. Most tests only provide insights into common allergies and may not cover the full spectrum of allergies.
  5. The field of genetics and allergy is still in its infancy; therefore, not all genes contributing to allergies may be investigated in the test.

Is DNA Testing For Food Sensitivity Accurate?

DNA testing for food sensitivities tells you whether you carry any gene changes that may either result in abnormal immune responses to food or insufficient enzymes to digest the food. 

This information can then be presented to your doctor, who can correlate the results with your symptoms and other relevant information.

They can then advise a suitable test to confirm food sensitivity. 

While a DNA test by itself cannot predict food sensitivity accurately, it can be used in junction with other tests to identify sensitivities and allergies.

DNA allergy test: 8 foods that cause 90% of all allergic reactions listed along with icons.

How To Get Started?

If You Have Already Taken An Genetic Ancestry Test:

  1. Download your DNA data from the original service provider
  2. Select โ€œAllergy and Drug Sensitivitiesโ€ report from the shop page
  3. Complete the purchase
  4. Upload your DNA data
  5. Receive your report within 24 hours.

Also Check Out:

Everything You Need To Know About Xcode Life's Allergy and Drug Sensitivity Report

If You Have Not Taken An Genetic Ancestry Test

If you're new to the world of genetic testing, we've got you covered! 

You can now get your ancestry DNA kits at an additional discount!

By following the links below, you can purchase a DNA kit at 10% OFF (the discount will be reflected when you add the product).

This will ensure that you have everything you need to embark on your genetic journey.

  1. 23andMe Ancestry Kit
  2. 23andMe Health + Ancestry Kit
  3. AncestryDNA Kit (currently no additional discount available)

Once you receive your kits, you can follow the instructions given by the respective service providers to collect your sample and ship it.

After receiving your DNA test results from the kit, follow the instructions to upload your DNA data to our secure platform.

Uploading Your DNA Raw Data To Xcode Life

Summary

  1. An allergy is a hypersensitivity reaction that occurs when a person reacts to substances in the environment that are usually harmless to others.
  2. While allergies are common in children, their incidence among adults is rising.
  3. Research has found that your genes may contribute to your risk of developing an allergy.
  4. IgE mediates food allergies and sensitivity, and it affects  5% to 8% of children and 1% to 5% of adults.
  5. Environmental and seasonal allergies develop due to an interaction between genes and environmental factors.
  6. You can opt for a DNA allergy test provided by a laboratory or purchase an at-home kit.
  7. DNA Allergy tests only provide you with potential risk for certain factors but cannot diagnose allergies or prevent you from developing an allergy.

References

Have you ever wondered what makes each of us unique? The answer lies deep within our DNA, the blueprint of life. Genetic variation is the driving force behind our individuality, shaping everything from our appearance to our health. Today, we delve into the fascinating world of genetics to uncover the ultimate source of genetic variations.

Xcode Life analyzes your DNA, focusing specifically on the genetic variations that make you the unique self you are. Watch this video to understand what you can get from Xcode Life's reports.

What Can You Get From Xcode Life's Reports?

What Are Genetic Variations?

Genetic variations are permanent changes in the DNA sequence that make up a gene.ย 

These variations are the differences in DNA sequences among different people in the population.

They can occur in the germ cells, the egg and sperm, or the somatic cells (all other cells).

Genetic variations can be passed on from generation to generation only if they occur in the germ cells.

While it was initially believed that all genetic variations cause a disease, it is not so.

They can:

What Is The Ultimate Source Of Genetic Variation?

Mutations (abnormal changes) and recombination are two major sources of genetic variations.

Mutations

Mutations are said to be the original source of genetic variation.

These are permanent alterations of a DNA sequence.

When there is an error during the DNA replication process that is not corrected by the DNA repair enzymes, they are termed a De novo or a new mutation.

Mutations can be beneficial to the organism or individual, harmful, or even neutral (when they do not affect the health or fitness of the individual).

When mutations occur in the somatic cells, they are called somatic mutations.

These mutations are mostly harmless and bring about local tissue changes like mole development.

What Is The Ultimate Source Of Genetic Variation? This picture is about the types of genetic mutations including substitutions, where one base pair gets substituted on behalf of the other, Deletions with a base pair gets deleted, Insertion, where one new base pair gets added and Inversions with swapping of the base pairs.

Recombination

Besides mutations, the next major source of genetic variation is recombination.

Every individual contains genetic material from both parents. Mixing of genetic material occurs during the recombination process, which shuffles the maternal and paternal DNAs.

This results in the recombination or creation of a new combination of variations in the cells of the individual. A genetic variation arises from this recombination. 

The image describes Genetic recombination with two parts with part A depicts the paired chromosomes with crossing over takes place with other pair leading to the recombination form and the part B part which consists of the region where the recombination might occurs.

Other Causes of Genetic Variations

Other causes of genetic variation are:

Mosaicism is a type of genetic variation that occurs when an organism is developing but is not present in the parental cells.

As the organism grows from the embryonic stage to adulthood, some cells that arise in the process may have an altered gene while others donโ€™t.

When a proportion of somatic cells have a genetic variant, it gives rise to somatic mosaicism. When this happens with the germ cells, it is called germline mosaicism.

How Do Genetic Variations Impact Human Health?

For an individual to function normally and healthily, every cell in their body must perform its functions properly. The thousands of proteins in the body must be in the right place doing their jobs.

A genetic variation, such as a mutation, may prevent the proteins from doing their job properly.ย 

Genetic variations lead to altered instructions, which may lead to a defective protein or no protein production. If this protein is essential to the body, it may disrupt normal functioning, causing a health condition.

When genetic variations cause a health condition, they are called genetic disorders.

It is essential to understand that genetic variations do not directly cause disease. Instead, the variations alter the geneโ€™s function, which causes a disease.

Letโ€™s take, for example, cystic fibrosis- a well-studied genetic condition. 

Every individual has a version of the CFTR gene.ย 

When an individual develops cystic fibrosis, they have a genetic variation in their CFTR gene that causes the disease.

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Are All Genetic Variations Dangerous For Human Health?

Not all genetic variations are harmful or cause genetic disorders.

In fact, a tiny percentage of genetic variations give rise to genetic disorders.

Genetic variations that can cause disorders are often repaired by enzymes even before the gene is expressed, and the altered protein is produced.

Some genetic variations are actually positive in nature.

These favorable genetic variations lead to the formation of proteins that help an individual adapt to their surroundings better.

Why Should I Learn About Genetic Variants?

Even though not all variations are directly disease-causing, many of them alter the risk of developing health conditions like heart disease, hypertension, stroke, type 2 diabetes, etc.

When subjected to triggers like a bad diet or a sedentary lifestyle, those with the "high-risk variant" will be more likely to develop the disease than those with the "normal variant."

Therefore, understanding your genetic makeup can be crucial in preventing, managing, and even treating chronic health conditions.

Summary: The Ultimate Source Of Genetic Variation

  1. Genetic variations are permanent changes in the DNA sequences that make up a gene.
  2. Genetic variations can affect germ cells as well as somatic cells.
  3. Mutations and recombination are the two major sources of genetic variations.
  4. A small percentage of genetic variations are harmful and cause disorders.
  5. Few genetic variations may be positive or helpful to the individual.

References

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