A simple change in two letters of your DNA can lead to red hair. Two common genetic variants, rs1805007 and rs1805008, are strongly associated with the red hair phenotype in humans. This article will dive into the science behind these variants and explore their role in determining hair color.
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The MC1R gene is the most studied human hair color gene on chromosome 16.
It contains instructions to produce a protein called the melanocortin-1 receptor, primarily located on the surface of melanocytes.
Melanocytes are highly differentiated cells that produce a pigment called melanin.
The melanocortin-1 receptor is involved in the pathway that produces melanin.
It controls which kind of melanin is made by melanocytes – eumelanin or pheomelanin.
When the MC1R gene is mutated, it reduces the ability of the melanocortin-1 receptor to stimulate eumelanin production.
This causes melanocytes to make high levels of pheomelanin.
Because they produce more pheomelanin, people are more likely to develop red hair.
Red hair is closely linked with two changes in the MC1R gene, denoted as rs1805007 and rs1805008.
The rs1805007 and rs1805008 are the two highly prevalent variants of the MC1R gene.
These variants have been nicknamed ‘R’ alleles to denote their strong association with the red hair color.
The rs1805007 and rs1805008 variants are also known as R151C and R160W, respectively.
The amino acid changes in these variants are Arg151Cys and Arg160Trp.
They make up 22% of the MC1R gene and account for 60% of all cases of red hair.
rs1805007
| Genotype | Effect |
| CC | Normal risk for melanoma |
| CT | Carrier of a red hair-associated variant; higher risk of melanoma |
| TT | Increased response to anesthetics; 13-20x higher likelihood of red hair; increased risk of melanoma |
Source: SNPedia
The rs1805007 has been linked to being more responsive to the analgesics pentazocine, nalbuphine, and butorphanol, often used by dentists.
However, redheads carrying this mutation have also demonstrated decreased responsiveness to inhaled general anesthesia desflurane.
rs1805008
| Genotype | Effect |
| CC | Normal risk for melanoma |
| CT | Red hair carrier, higher risk of melanoma |
| TT | ~7-10x higher likelihood of red hair; higher risk of melanoma |
Source: SNPedia
The genetic variants rs1805007 and rs1805008 are strongly associated with the characteristic red hair color.
These variants impact the production of melanin, the pigment responsible for hair color, and result in the distinctive coloration seen in redheads.
Beyond hair color, these variants have also been linked to other physical traits and health conditions, like melanoma.
While having red hair may not confer any particular advantages or disadvantages in modern society, studying the genetics behind hair color can help us better understand the complex interplay between genetics and physical traits.
As research in this field continues to expand, we may uncover even more insights into the complex genetic landscape of human diversity.
Did you know that glaucoma is one of the leading causes of irreversible blindness worldwide? Unfortunately, many people don’t realize they have glaucoma until the disease has progressed to a later stage. That’s why it’s crucial to know the early signs of glaucoma to get prompt treatment and protect your vision. In this article, we’ll discuss five early signs of glaucoma that you need to know.
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Glaucoma is a group of eye diseases that damage the optic nerve.
More than 12 million Americans are blind from glaucoma.
The damage to the optic nerve is usually a result of increased pressure in the eye, called intraocular pressure (IOP).
Aqueous humor, the fluid within your eye, drains through the angle at which the iris and cornea meet.
When this fluid cannot drain, the pressure in your eye rises, harming your eyes.
However, there are a few types of glaucoma where damage can happen without the rise in IOP.
Open-angle glaucoma and angle-closure glaucoma are the two main types of glaucoma.
It is one of the leading causes of blindness.
This condition occurs when fluid buildup in your eye due to clogging of the drainage system.
It usually shows no signs but can manifest as blind spots in your side vision in later stages.
Gradually, your central vision may also be affected.
In this condition, the drainage canals are partially blocked.
Here the iris can end up blocking your eye’s drainage canals.
It can manifest as sudden blurry vision, nausea, and rainbow-colored rings or halos around lights in your eye.
When your drainage system is completely damaged, it is called acute angle closure glaucoma.
It is a medical emergency and should be treated immediately.
This condition can gradually lead to vision loss.
Anyone above 60 years of age is more prone to developing this condition.
However, children and infants can also suffer from glaucoma.
If any of your close family members had glaucoma, you are at an increased risk of developing the condition.
Glaucoma can occur at any age but is more common in older adults aged 60 or above.
It is one of the leading causes of blindness among the aged population.
The earlier you identify the signs of glaucoma, the better your chances of managing this disease.
Here are five signs to look out for if you are prone to develop this condition.
Glaucoma is one of the leading causes of vision loss.
Therefore, blurry vision is one of the first signs of glaucoma.
You might have blind spots in your vision or have an affected side vision.
Gradually your central vision may also be affected.
Glaucoma is a condition where the pressure inside your eyes increases. That is why it is common to experience eye pain if you are suffering from glaucoma. In addition, it may be accompanied by a headache.
Eye redness can be a result of many diseases like conjunctivitis.
It can also be due to a foreign particle that has entered your eye.
However, it can also be a symptom of glaucoma.
It is a common symptom of angle-closure glaucoma.
Seeing halos around lights is also a common symptom of many eye problems.
You should see your eye doctor immediately if you see a rainbow-like circle around a light.
Some people can’t look at light sources, another severe symptom of glaucoma that has progressed.
The usual eye-related symptoms are often accompanied by nausea and vomiting in glaucoma.
You might feel nauseous all day and tend to throw up constantly.
Glaucoma is a disease that usually shows no symptoms until in the later stages.
It is crucial to identify symptoms since you can get them yourself as soon as possible.
Loss of peripheral vision is often the first warning sign of glaucoma.
You might suffer from glaucoma if you have severe bouts of nausea, vomiting, and intense eye pain.
You might experience eye redness or sudden vision loss due to acute glaucoma.
A cloudy cornea is a common sign of childhood glaucoma.
Tunnel vision, eye pain, and seeing halos around lights could also be due to glaucoma.
Your ophthalmologist may perform specific tests to diagnose you with glaucoma.
Glaucoma has no cure, but vision loss can be prevented or slowed down if detected early.
Here is a list of things you can do to safeguard yourself against glaucoma:
You should get your eye checked every 5-10 years if you are younger than 40 and more frequently once you get older.
Know your family’s eye health history, and get yourself checked often if any of your close relatives have glaucoma.
If you are playing a sport or doing an activity where there is a possibility of suffering from an eye injury, wear protective gear.
Glaucoma does not have a cure yet.
But if detected early, the condition can be manageable.
Your doctor might prescribe you medications and eye drops, which, if taken regularly, will prevent vision loss.
Glaucoma is an eye condition that develops due to pressure buildup within the eye.
It is one of the leading causes of blindness.
Glaucoma can be of different types and usually does not show symptoms until later stages.
However, it can manifest as eye redness, blurred vision, and eye pain.
Treatment includes regular eye tests and medication to make the condition more manageable.
Motherhood, often lauded as one of life’s most transformative experiences, can be a whirlwind of emotions. Amidst these fluctuations, many mothers grapple with an often under-discussed concern: postpartum depression. Though it remains a silent struggle for many, the medical community has been hard at work searching for effective treatments. In this ongoing journey, the FDA’s recent approval of Zurzuvae, a postpartum depression pill, marks a significant milestone in female health and well-being, especially in the postnatal period.
Postpartum depression (PPD) has gained attention due to its growing prevalence.
Based on research conducted by CDC, 1 in every 8 moms goes through symptoms of PPD.
Additionally, more mothers are being diagnosed with depression after childbirth. It was 7 times higher in 2015 than it had been in 2000.
Afterward, the outbreak of COVID-19 had another negative effect.
A recent study published in the Journal of Psychiatric Research found increased symptoms of PPD among new mothers during the first year of the pandemic.
This trend then escalated, reaching a peak of 7.7% between December 2020 and March 2021.
Indeed, here are the 5 key things you should know about this new postpartum depression pill.
It is best to have it in the evening with a fatty meal. Avoid driving or handling heavy items for at least 12 hours after taking this pill.
If you’re considering having a baby, use extra protection while taking Zurzuvae for a week afterward.
After that, you’ll be able to find it on the shelves this year. The cost has yet to be disclosed.
The Zurzuvae makers, Sage Therapeutics and Biogen, have chosen to keep it confidential.
These extensive trials showed that it effectively alleviated symptoms of PPD in women for 45 days after taking it.
It requires a continuous intravenous (IV) infusion over 60 hours for approximately 2.5 days.
Unfortunately, it can be quite costly, ranging from $20,000 to $35,000 per treatment.
It’s like a gentle nudge to help you return to feeling like yourself.
When a woman suffers from PPD, she frequently has a problem with gamma-aminobutyric acid (GABA), a type of brain chemical.
In conditions like postpartum depression, GABA levels are reduced, and it doesn’t perform the functions it’s supposed to.
Zurzuvae is designed to work on this particular brain chemical (the reason why this drug is specific to PPD).
It is a manmade version of a hormone called allopregnanolone. Ideally, when this hormone is present at normal levels, it supports GABA activity and keeps feelings of depression at bay.
However, in those with PPD, allopregnanolone levels drop.
Zurzuvae acts as a replacement for this, bringing GABA levels back to normal.
Zurzuvae has the advantage of being a once-a-day pill, making it a more convenient option than its predecessor, Zulresso, which requires an injection.
The randomized clinical trials (NCT04442503) were conducted to test Zurzuvae’s effectiveness.
The trials were meticulously organized to be double-blind, implying that neither the participants nor the researchers knew who received the real medication.
195 women with PPD were split into two groups and underwent analysis.
One group (n=98) received 50mg Zurzuvae, while the other group (n=97) was given a placebo (a dummy pill with no effect).
The outcomes of the study were promising.
Women who took a daily dose of 50mg Zurzuvae for two weeks observed a noticeable reduction in their PPD symptoms on Day 15.
Specifically, their symptoms scored -15.6 on the measurement scale.
In comparison, the placebo group scored -11.6 points on the same scale.
This indicates a notable difference of -4.0 points.
These results were evaluated using a specialized depression measurement tool, the 17-item Hamilton Rating Scale (HAMD-17).
The encouraging news is that improvements began as early as day 3 and remained till day 45.
Note: Under the brand name Zurzuvae, Zuranolone is sold.
If you’re considering using a postpartum depression pill, it’s important to be aware of possible side effects.
Here’s what you should know:
Important points to remember:
Zurzuvae is the first FDA-approved postpartum depression pill to alleviate symptoms of PPD in women.
It brings a ray of hope with some solid proof from tests that show it can help women feel better mentally.
Zurzuvae offers a simpler way to take it (just once a day), with solid results from clinical trials backing it up.
The numbers don’t lie – PPD is rising, and the pandemic has toughed things.
With Zurzuvae, the path to the early days of motherhood seems brighter and more hopeful.
It is essential to take your doctor’s advice before considering this postpartum depression pill.
https://www.cdc.gov/reproductivehealth/features/maternal-depression/index.html
https://www.sciencedirect.com/science/article/pii/S002239562200214X
https://www.drugs.com/zurzuvae.html
https://classic.clinicaltrials.gov/ct2/show/NCT04442503?term=217-PPD-301&draw=2&rank=1
There appears to be some truth to the age-old belief that body aches are a sign that bad weather is approaching. It’s more than just an anecdote! In fact, research suggests a relationship between pain levels and changes in weather, particularly in those suffering from chronic pain (like arthritis). So, what is the truth about rainy days and our health? Read on to find out whether body pain can be caused or worsen due to cold weather.
Did You Know? Your ancestry test DNA data includes 700,000 markers, which can be used to learn everything from disease risk and drug sensitivities to nutritional requirements and fitness parameters, even your pain tolerance. Learn more.
Historically, individuals suffering from chronic pain conditions like arthritis have often claimed that their symptoms intensify in cold weather.
Researchers have undertaken multiple studies to understand this link.
Some evidence suggests that a drop in temperature can lead to an increase in muscle stiffness and joint pain.
Although the reasons behind this aren’t entirely clear-cut, the connection between body pain due to cold weather is hard to ignore.
Several theories explain the link between increased body pain and colder temperatures:
How Genes Influence Your Pain Tolerance?
Absolutely. People with chronic pain conditions or those who’ve had prior injuries might notice more pain during cold weather.
Older adults, with naturally reduced blood circulation and joint wear, may also experience an increase in pain symptoms.
Additionally, those who are more sensitive to changes in atmospheric pressure or have certain genetic predispositions might be more susceptible to body pain due to cold weather.
Several health conditions may see exacerbated symptoms in cold weather:
If you’re susceptible to body pain due to cold weather, consider the following tips:
In conclusion, despite many reports of worsening body pain due to cold weather, the mechanism behind it is poorly understood.
Theories surrounding this point towards atmospheric pressure changes and blood vessel constriction during cold weather.
It is important to note that everyone experiences and manages pain differently. Therefore, it is important to sit down with your doctor to find a method of pain management that suits your body well.
Nonalcoholic fatty liver disease (NAFLD) is becoming a global threat in the healthcare industry, with more than a quarter of the world’s population affected.
Researchers now believe that certain gene variants could be encouraging the development of this condition.
Novel therapeutic treatment options targeting specific gene expressions could be the most effective way to handle NAFLD.
Read more about personalized treatment options for NAFLD and the different therapeutic treatments to look forward to in the future to handle fatty liver.
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.
Nonalcoholic Fatty Liver Disease (NAFLD) affects a quarter of the global population.
NAFLD is the most commonly occurring liver disease worldwide.
This condition can lead to liver damage and cirrhosis if left untreated.
While some of the common causes of NAFLD are lifestyle-related, researchers now believe that genetic factors also play an essential role in determining the rate of fat deposition and metabolism.
One important gene associated with NFALD is patatin-like phospholipase domain containing 3 (PNPLA3).
The patatin-like phospholipase domain containing 3 (PNPLA3) gene helps produce a protein named adiponutrin.
Adiponutrin is an essential component of hepatocytes (liver cells) and adipocytes (fat cells).
The complete role of adiponutrin is not well understood as of now.
However, researchers believe adiponutrin may play a role in fat production and breakdown.
It may also help develop adipocyte cells.
It has been noticed that during periods of fasting, the functioning of the PNPLA3 gene decreased.
PNPLA3 gene’s function increased after a meal.
This suggests that the PNPLA3 gene and the adiponutrin protein also play a role in fat metabolism and storage in the body.
NAFLD is a condition caused by excessive fat deposition in the liver.
NAFLD is characterized by high levels of serum LDL cholesterol and triglycerides and overweight.
The PNPLA3 gene breaks down triglycerides and other types of fats.
Studies report that mutations in this gene lead to a build-up of triglycerides in the liver.
This, over time, can lead to conditions like liver inflammation, NAFLD, liver cirrhosis, and even liver cancer.
The PNPLA3 gene is a lipid regulator in the liver cells.
In the liver cells, this gene helps break down triglycerides and convert polyunsaturated fatty acids into their intermediate form, called phosphocholines.
These processes are required to break down fat and eliminate it from the body.
Mutant forms of this gene can therefore affect fat breakdown in the liver and lead to fat accumulation instead.
A particular variant of the PNPLA3 gene was commonly found in those diagnosed with NAFLD.
People with this variant had problems in the regular production of the adiponutrin protein and could not break down fats in their bodies.
Researchers are now trying to target this gene and create therapeutic solutions for different liver diseases.
A 2021 study published by Cherubini and his team explores the idea of using the PNPLA3 as a therapeutic target for slowing down the progression of NAFLD.
According to this study, the PNPLA3 rs738409 C>G variant is the most commonly noted mutation in individuals with NAFLD.
This variant is associated with liver cirrhosis and inflammation and increases the risk of developing hepatocellular carcinoma (liver cancer) by up to 10 times.
The current generation of therapeutic treatments aims at targeting and disrupting specific protein expressions in the body to achieve favorable results.
Researchers are using liver-targeted Antisense Oligonucleotides (ASOs) as potential treatments for NAFLD.
ASO-based therapies use drugs that bind to the target RNA and modify protein expression through different mechanisms.
There are already preclinical trials conducted using liver-targeted ASOs.
These results report that the PNPLA3 ASO therapy effectively reduced the severity of Nonalcoholic Steatohepatitis (NASH) at all stages.
NASH is a more severe form of NAFLD.
The therapy was able to suppress the actions of the PNPLA3 148M protein successfully.
It helped reduce the intensity of liver inflammation, fibrosis, and fat accumulation.
The next step is the clinical trial, where the researchers would try and treat NASH patients with the PNPLA3 ASO therapy.
The research team hopes to deliver precision medicine to people with NASH using ASO therapy in less than ten years from now.
The team also emphasizes the need to understand the different variants of the PNPLA3 gene and other genes of interest to know how they would react to targeted therapy.
PXL770 is a novel therapeutic drug under investigation to treat NAFLD.
AMP Kinase (AMPK) is an energy sensor associated with lipid metabolism.
The PXL770 drug is a direct AMPK activator and could help people with NAFLD and type-2 diabetes handle their conditions better.
Between 2019 and 2020, a randomized, placebo-controlled, phase 2a study was conducted in 120 patients.
According to the researchers, AMPK activation definitely has the potential to become a pharmacology target in those with NAFLD.
PF-06835919 is a Ketohexokinase (KHK) inhibitor under investigation to treat NAFLD and NASH.
KHK is an enzyme that converts fructose into its next stage, fructose-1-phosphate.
High fructose consumption is one of the reasons for developing NAFLD.
Researchers conducted a randomized phase 2 trial in 2021 with 48 participants.
The research reports that KHK inhibition may be a potential pharmacological target in treating NFALD.
In 2021, an open-label phase II study was conducted to test the effectiveness of PX-104 against liver diseases.
PX-104 is a non-steroidal FXR agonist.
Four-week treatment with PX-104 lowered serum alanine aminotransferase (ALT) and γ-glutamyltransferase (GGT) levels.
These are markers pointing to liver diseases.
Researchers recommend further studies on this medicine to treat NAFLD and NASH.
https://www.mdpi.com/2077-0383/12/5/1852
https://pubmed.ncbi.nlm.nih.gov/34904923/
https://www.tandfonline.com/doi/full/10.1080/14728222.2021.2018418
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7262620/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777808/
https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/pnpla3
https://www.frontiersin.org/articles/10.3389/fmed.2019.00304/full
https://medlineplus.gov/genetics/gene/pnpla3/
https://pubmed.ncbi.nlm.nih.gov/29935383/
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0132640
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Home DNA tests have become very popular because they are readily available and affordable.
Did you know that 1 in 5 Americans have already taken at least one DNA home test?
Taking a DNA test can be life-changing for many. That’s why it is critical to pick an accurate and trustworthy kit.
DNA tests are also called genetic tests. These analyze a person’s genes to identify mutations or changes in them.
These mutations can increase the person’s risk for various physical and mental health conditions and be the reason for specific actions and traits.
A person’s genes can also help identify their ancestry details, giving clarity on what their ethnicity could be.
At-home DNA tests don’t require the user to visit the lab or testing center to provide their DNA samples or get results. The samples are provided via mail, and the results are received by email.
The following are steps to take an at-home DNA test.
Medical DNA tests are also called clinical DNA tests. Here, healthcare professionals collect samples and run tests in a lab setting.
Most patients who undergo clinical DNA testing would have the opportunity to undergo genetic counseling. Some tests can tell if you may develop a certain health condition.
At-home DNA tests are done in a similar clinical setup. However, the samples for these are collected and sent by the individuals. If the samples are compromised, then the results can vary.
Home DNA tests also cannot definitively predict health conditions. They can only say if the person has certain gene changes that may increase the risk of certain diseases.
Finally, it is easy for individuals to misread reports and test results. So it would be best to talk to your healthcare provider before making any changes in lifestyle, medications, or diet based on your at-home DNA test reports.
Currently, at-home DNA tests cannot identify your risk for all diseases or traits and are limited to certain conditions. Even with the diseases they test for, they can only say whether or not you are at risk for developing them.
You may be the carrier of a mutated gene for diabetes but not develop it. Inversely, some disease-causing variants may not be identifiable with these tests, and you may still develop the condition.
You may need to get a clinical genetic test done for confirmation.
At-home DNA tests are also called Direct-To-Consumer tests. You must understand these tests to make full use of them.
At-home DNA tests have allowed people to explore their ancestry details, health and wellness traits, and carrier statuses.
These are affordable and, more importantly, can be done from the comforts of their home without needing an expert to prescribe them.
These tests can open up awareness about genetic diseases and offer recommendations regarding diet and lifestyle changes. The test reports can help you stay proactive and get yourself tested regularly if you are genetically inclined to develop certain health conditions.
If you are interested in knowing your ethnicity, these direct-to-consumer tests can give detailed ancestry details too. Many people find bloodlines on genomic websites using their family tree applications.
You have to know that such at-home DNA tests are still being researched. They may not offer you a complete picture of your health and wellness and may need to be followed up with clinical tests if you want more clarity.
At-home DNA tests offer you an overall health risk profile, which is great for someone whose family has had its share of genetic diseases in the past. It may be beneficial to know if you are at risk for developing inherited health conditions to take proactive steps.
These reports may also give a detailed list of possible allergens, from common ones like pollen to lesser-known ones like misophonia.
Mental health is a huge topic of interest now. Xcode Life’s mental health traits report may help you understand how your genes affect your feelings and thoughts.
Clinical DNA tests can be costly unless your healthcare provider approves and your insurance covers them.
For just $149, Xcode Life’s Premium Pack helps you explore 3000+ health and wellness traits in the following categories.
All you need is your raw DNA data. The company accepts raw data from most top genomic and ancestry companies. Once you upload the data, you can get results in less than a day.
This is a great package and offers value for money for individuals interested in knowing how their genes play a role in their physical and mental health and personalities.
At-home DNA tests are not as accurate as clinical genetic tests. However, if you are just trying to get started with DNA testing and there is no specific need for clinical tests, these at-home DNA tests are a great affordable start to exploring your genes and their effects on your life.
Know the limitations of home DNA tests and have practical expectations of the results.
