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Freckles have been a source of admiration, envy, and curiosity for many generations. But how do they form? Why do some people have freckles on their faces and others do not? Along with sun exposure, your genes also play a role in the development of freckles.
Freckles are small brownish dot-like structures seen on sun-exposed areas (mainly the face) in some people.
During sun exposure, a type of skin cell called melanocytes produces a pigment called melanin. Melanin produces hair, eye, and skin pigmentation.
If the melanocytes produce melanin evenly, you get a tan when you’re in the sun. But in some people, more pigment is produced in some areas than others, which results in freckles.
Certain genes regulate the function of melanocytes. Thus, these genes also play an important role in skin pigmentation. Any changes in these genes can put a person at a higher risk for freckles, sun spots, and tanning.
For example, a gene called MC1R produces the receptor for the melanocyte-stimulating hormone, one of the two hormones that regulate pigmentation.
Certain changes in MC1R results in lower stimulation of pheomelanin (the lighter pigment). This results in the overproduction of eumelanin (the darker pigment) in certain areas, leading to freckles.
The MC1R gene also influences the chances of someone having red-coloured hair. In some people, the production of eumelanin is much lower compared to pheomelanin. This results in light-coloured hair.
Stretch marks are telltale signs of pregnancy or drastic weight gain.
However, we all know someone who has come out of her pregnancy without a mummy tummy or stretch marks. What makes some people prone to stretch marks while others seem to have considerably less?
Can we now unravel the secret behind why someone is less likely to get stretch marks? Do you want to find out more about your stretch marks genes?
Stretch marks, also called striae distensae, are common and range in prevalence from 50 to 80%.
Initially, they have a reddish appearance but later turns white.
These are linear bundles of collagen that lie parallel to the skin’s surface and scar the striae.
A genome-wide association study was carried out on 33,930 unrelated 23andMe customers who were of European descent.
This study included 13,068 cases and 20,862 controls.
The men in the study were found to be less likely to have stretch marks (25% among men against 55% among women).
ELN gene codes for the highly elastic protein elastin that helps the skin return back to its original position after stress.
In simple terms, elastin is the reason why your skin gets back to normal after it is stretched or poked.
The influence of this gene on skin elasticity has been studied extensively in the autosomal dominant condition cutis laxa, which is caused due to mutations in the elastin gene.
The symptoms of this condition are loose and sagging skin, with a higher risk of aortic aneurysm.
Specific variants of the ELN gene are associated with a lowered expression of elastin, which is shown to increase the risk for stretch marks.
FN1 gene codes for fibronectin, which is an extracellular matrix protein that binds to integrins and collagen which maintain the integrity of the skin.
When skin biopsies were conducted on people with stretch marks, there was a lowered expression of fibronectin.
Specific variants of the FN1 gene are associated with a lowered expression of elastin, which is shown to increase the risk for stretch marks.
Genetic variants present in other genes like HMCN1, SRPX, and TMEM18 are also associated with the risk of stretch marks.
There is a complex relationship between genes and the environment.
Factors like the use of creams or lotion, diet and lifestyle also playing a role in the outcome.
Therefore, the information obtained from your skin genetic report can be used to tailor diet and lifestyle to lower risk of stretch marks.
Most people follow a skin care routine for better skin.
However, the Gene Skin Report can reveal several such aspects that people are generally unaware of like the risk of skin diseases or need for certain nutrients vital for skin health.
Upload your 23andme raw data, Ancestry DNA, or FTDNA raw data to Xcode Life to find out if you have the genetic variants associated with increased risk of stretch marks.
Xcode Life's Gene Skin Report provides information on stretch marks, acne, varicose veins, vitamin C needs, and more than 25 such traits.
[/vc_column][/vc_row]Affecting more than 415 million people globally, rosacea is a common skin condition, although a poorly understood one. The face and eyes are primarily affected, and the condition is often mistaken for being an 'adult acne'. According to a National Rosacea Society survey, close to 95% of patients know next to nothing about the signs just before being diagnosed. So, what are the types of rosacea and how different are they from acne? And, what's the role of your DNA in all of this?
Dating back to the 14th century, Rosacea was first called 'goutresse’, by a French doctor because of the facial redness it caused. The condition is now known to be chronic and inflammatory. There are different types of rosacea, most often accompanied by swollen red bumps and small visible blood vessels.
Since the condition mostly affects the face, they’re often mistaken for acne, eczema, or allergy. It predominantly known to affect females, especially when they are between 30 and 50 years of age. Those of European ancestry are also at a higher risk for the condition.
Rosacea is kind of an umbrella term that covers the four different subtypes:
| Erythematotelangiectatic rosacea (ETR) Symptoms: Facial redness, flushing, and visible blood vessels. | Papulopustular (or acne) rosacea Symptoms: Acne-like breakouts, swelling, and redness. |
| Phymatous/Rhinophyma rosacea Symptoms: Thickening and redness, mostly on the nose. Often co-exists with other types. | Ocular rosacea Symptoms: Redness in the eye, along with irritation and swollen eyelids. |
Before taking up a certain course of treatment, dermatologists often look for common triggers that cause a rosacea flare-up. The common triggers are:
Out new: Magnesium Requirements: Understanding The Genetics Behind It and More
Genetic factors have been shown to play a role in increasing the risk of the condition. Since the most apparent symptoms are redness and inflammation of the skin, rosacea could be caused by genes associated with blood vessel abnormalities and immune reactions. Rosacea is caused by mutations in two gene families:
The HLA genes, primarily involved in immune function, help the body in distinguishing foreign proteins from the body’s own. Variations in these genes have also been linked to rosacea symptoms - when the immune system misdirects the response, causing inflammation of the blood vessels.
The proteins encoded by the GSL gene family help in protecting cells from oxidative damage - for example, the ones caused by exposure to sunlight and UV rays. Mutations in this gene complex could affect its efficiency in protecting skin cells, leading to rosacea.
A genome-wide study that analyzed over 20,000 individuals with European descent was able to set forth a genetic basis to Rosacea. In this preliminary study, volunteers who were in the ‘cases’ group having answered yes to rosacea symptoms, were tested for genetic variation. One variant was found to be associated with disease occurrence, and this is located between two genes - HLA-DRA and BTNL2. The variant was found to influence the inflammatory response associated with rosacea.
A coincidental finding of this study was that variations in the HLA gene were also related to symptoms of diabetes and celiac disease, giving a suggestive link that rosacea may act as a visual cue to another underlying disease.
It is easy to misdiagnose rosacea for acne, but there are several subtle differences:
| Trigger | Organs affected | Risk group | Treatment | |
| Rosacea | - Stress - Sunlight - Exercise - Spicy food - Alcohol | - Eyes - Eyelids - Cheeks - Nose - Forehead | - 30+ years - Women - Men (severe form) | - Topical solutions - Retinoids - Laser therapy - Antibiotics |
| Ance | - Hormonal imbalances - Medications - Stress - Diet | - Face - Chest - Back - Shoulders | - Teenagers - Young adults | - Topical solution - Retinoids - Chemical peels - Antibiotics |
There is no direct diagnosis for this condition. The main indicator of rosacea is that the redness is contained to the face or the presence of enlarged blood vessels on the face.
I. Preliminary diagnosis:
The preliminary diagnosis occurs with a physical examination of the face. If there is scarring elsewhere (like on the scalp), or if the doctor suspects another medical condition, like lupus, blood tests would be ordered.
II. Clinical tests:
Other clinical tests would also be performed to rule out other confounding conditions like psoriasis or eczema. If the symptoms include the eyes, consultation with an ophtlamologist may be required.
Several foods could trigger flare-ups. It is preferred that these are limited or avoided:
Foods that reduce inflammation, healthy fats, probiotics, and fiber-rich foods may be able to help or reduce the severity of some rosacea symptoms. These include:
People with rosacea may develop really sensitive skin, that could be easily irritated by the wrong choice of cleansers, creams, and makeup. Some common triggers:
Rosacea could become severe if left untreated. However, most treatment practices help in managing symptoms. The course of treatment usually differ based on the types of rosacea.
It is important to note that rosacea is a chronic condition and so these treatments only help in reducing the intensity of the symptoms.
There are a lot of DIY/home remedies to manage rosacea:
In all, the many types of rosacea are chronic and inflammatory that requires intensive care and a strict diet and skincare regime. The exact cause of this condition is unknown, and maybe there could be a link between rosacea and other underlying diseases, but that can only be determined through more studies. Currently, there is no treatment, however, symptoms can be managed.
Upload your raw data to Xcode Life for insights into 700+ health-related traits!
Varicose veins are swollen, enlarged veins that commonly occur on the legs and feet and appear bluish-black through the skin.
They occur because of improperly functioning, blocked valves that either cause accumulation or pooling of blood, or flow of blood in the wrong direction, thereby causing the legs to swell up.
About 23% of all adults are believed to suffer from this condition, and in severe cases, it can be painful too.
The condition usually does not need treatment in its initial stages, but if the pain, swelling, or pain in the legs is causing extreme discomfort, it might need medical attention.
Varicose veins are large, swollen, and twisted veins in the legs and appear bluish-black through the skin.
They look different from spider veins that are smaller, red, purple, or blue blood vessels and are also visible through the skin.
However, as mentioned earlier, they have differences that tell them apart:
Spider veins are thin, more delicate, appear redder along with purplish-blue color whereas, varicose veins are much larger, thick and tortuous and appear bluish-black, and also often bulge from the skin.
Spider veins never have symptoms such as pain or discomfort but can cause itching, burning sensation, or lead to secondary skin infections.
Varicose veins, on the other hand, are often more painful, cause heaviness, swelling, throbbing, night cramps, and fatigue in the legs.
People with spider veins seek treatment mainly for cosmetic purposes, and in many cases, the tiny blood vessels burst and bleed when the skin is rubbed too hard.
If this bleeding occurs under the skin, it can cause bruising too.
However, it rarely leads to swelling of the affected area.
In the case of varicose veins, people are often troubled by its many secondary troubles such as ulcers, changes in the skin, frequent swelling in the legs, etc.
Haemorrhoidal tissue is present in everyone and is made up of arteries, veins, and connective tissues surrounded by muscles.
When this tissue gets enlarged or swollen, it is referred to as hemorrhoids.
They are more common than we think, but people are often as uncomfortable talking it as they are living with it.
This tissue is found in the rectal area, and this condition is most commonly diagnosed when there is pain or bleeding while using the restroom.
Hemorrhoids are of two types:
Varicose veins, on the other hand, are quite similar to hemorrhoids, but they are primarily found in the weight-bearing areas of the body, i.e. the legs.
They appear engorged, swollen, ropy, and bluish-black through the skin.
Though they can occur anywhere in the body, they primarily occur in the legs and feet.
The leading cause for varicose veins as damaged or blocked veins in the legs.
In the human body, the veins are blood vessels that are responsible for returning the blood to the heart.
The veins of the legs need to do so by working against gravity. Veins contain small valves that prevent the back-flow of blood and allow the blood to return upwards towards the heart.
However, if these valves do not function properly, are weak or damaged, the blood flows backward and begins to pool in the legs.
This causes varicose veins.
How do you know if you are suffering from varicose veins?
Some common symptoms include:
Some reasons predispose one to develop varicose veins.
These include:
An increase in age increases the risk of developing varicose veins because of the gradual wear and tear of the valves that occur as we grow older.
An increase in weight and obesity increases the pressure on the veins in the legs, increasing the risk of varicose veins.
The increase in blood volume, along with hormonal changes that occur during pregnancy, increases a woman’s risk of developing varicose veins.
Women are more prone to varicose veins as compared to men.
Hormonal changes that occur during the menstrual cycle, pregnancy, and menopause cause the veins to dilate due to hormones.
Using hormonal pills such as birth control pills increase the risk even further.
Individuals who stand a lot as part of their job – traffic police, teachers, etc., are more prone to developing varicose veins over a period of time.
Having a family member with varicose veins increases an individual’s risk of developing the condition.
Women are at a higher risk of developing varicose veins due to the hormones progesterone and estrogen, which causes the veins to dilate.
During pregnancy, these hormones cause dilation of smooth muscles, including the uterus and event the veins in the legs, causing the veins to get larger.
This dilation of the veins causes the valves inside them to get damaged, and they are unable to function properly to help the veins return the blood to the heart.
This leads to the pooling of blood and varicose veins.
Another situation that can arise during pregnancy is that the increase in the blood volume during this time puts immense pressure on the veins of the legs leading to varicose veins.
The increase in blood volume during pregnancy can be up to 30% than the usual volume in her non-pregnant body.
Bodybuilding is a physical activity that involves controlled and progressive strength training to develop muscular definition in the body in individuals who are interested in bikini, fitness, or other similar aesthetic competitions.
One thing that we see among bodybuilders is the vascularity or the superficial blood vessels.
It often appears like they have thin skin with bulging veins.
This is mainly due to the extreme reduction of subcutaneous fat that brings about muscle definition.
There are many different ways that bodybuilders attain vascularity; this has always been controversial.
However, this vascularity is not the same as varicose veins. But, bodybuilders are very highly prone to varicose veins.
The reasons for this are:
The treatment options include treating the cause as well as the many symptoms.
However, no extended hospital stays or extensive surgical procedures are needed to treat them.
The current treatment options for varicose veins are:
This involves self-care measures such as regular exercises, weight management, wearing light, and loose, breathable clothes, keeping your legs elevated while sitting or sleeping, avoiding long periods of sitting and standing.
These can be done to reduce the symptoms of pain and discomfort.
This is a very commonly used clothing that you see many people with varicose veins wear.
These are tight stockings that are worn on the legs and help to squeeze the legs that support the veins and muscles of the leg to move the blood smoothly towards the heart, thereby preventing pooling or accumulation of the blood.
More severe cases of varicose veins are treated using methods like sclerotherapy laser treatments, Ambulatory phlebotomy, high ligation, and vein stripping, catheter-assisted procedures using radiofrequency, and endoscopic vein surgery.
The symptoms of varicose veins may worsen on exposure to sunlight.
This facilitates the cooling down of the body as the veins widen to bring blood to the skin’s surface.
However, in the case of varicose veins, the enlarging of the already faulty valves ends up heightening swelling and pain in the legs.
Do you experience extra pain in your varicose veins just before your periods?
The surge in the progesterone a week or two before your menstruation results in the loosening of veins to aid better blood flow.
But this imposes a strain on the valves in the veins present in the legs to adapt to the excess blood flow.
As a result, varicose veins emerge, or the existing ones worsen.
Compression stockings are the best way to manage the pain if your varicose veins flareup during the premenstrual stage.
Exercises that work your calf muscles also help pump the blood better without it pooling in the veins.
We all are aware that an increase in weight and obesity are high-risk factors for many heart and cardiovascular diseases.
An increase in weight is also a prime causative factor for varicose veins.
An excess amount of weight, more than that your body is built to carry puts immense pressure on your legs and the veins in them.
To support the excess body weight, the veins begin to dilate. The larger the vein diameter, the valves get stretched and damaged.
This results in improper functioning of these valves, leading to pooling of blood in the legs, leading to swelling and pain in the legs.
Some people also suffer from fatigue, restlessness, and itchiness in the legs.
One can prevent the development of varicose veins by maintaining a healthy weight.
Those who are obese and already suffer from it can prevent their condition from worsening by reducing their weight and ensuring regular physical exercise.
One of the popular treatment options for this condition is laser treatment.
In this method of treatment, the heat from the lasers is used to damage the veins in the legs and leading to scar formation.
This scar formation blocks the veins, and in a year or two, these blocked veins disappear.
There are two types of laser treatments that are done for varicose veins:
The recovery time after these laser treatments is typically short, and one can return to a routine in a day to a week.
This is a standard treatment method used to treat both varicose veins and spider veins.
This procedure involves injecting a salt solution directly into the veins.
This irritates the veins and causes them to collapse and stick together and the blood to clot.
Gradually over some time, this results in the formation of scar tissue, and the vein disappears.
This method of treating has been in practice since the early 1900s.
This is also a commonly used treatment.
In this procedure, many tiny cuts are made in the skin to remove the varicose vein.
It is done under local anesthesia and does not require a hospital stay.
However, this procedure needs to be accompanied by other methods for more effective results.
Compression socks are a special kind of stockings that are meant to be worn on the legs to ensure healthy blood circulation.
For this reason, they are beneficial to relieve symptoms in conditions such as chronic venous insufficiency, spider veins, and varicose veins.
When these stockings are worn, they are said to improve the symptoms because of the pressure that they apply on the ankles and legs, which compresses the superficial arteries and veins, thereby helping the blood flow to the heart and prevent backflow without any problems.
It is advised to wear these compression socks in the morning, before lowering your feet to get out of bed.
Your doctor will prescribe the best stockings for your condition.
Varicose veins tend to run in families. Heredity is one of the most important risk factors for developing varicose veins.
[table “157” not found /]This SNP is associated with the PIEZO1 gene that is located on chromosome 16.
The presence of the A allele increases the risk of the individual to develop varicose veins.
The PIEZO1 gene is associated with encoding a vascular mechanosensory channel, and a disruption in this channel has shown to cause disorganization of the vascular system.
This SNP is associated with the SLC12A2 gene located on chromosome 5.
The SLC12A2 is associated with maintaining the vascular tone and cell volume in the body.
The presence of the C allele increases the individual’s risk of developing circulatory disorders such as varicose veins.
This SNP is located on chromosome 5 in the EBF1 gene.
The T variant of this gene increases the risk of varicose veins.
This SNP is located with the HFE gene on the short arm of chromosome 6.
The HFE gene is also known as the human Homeostatic iron regulator.
The presence of the G allele in relation to the SNP rs7773004 increases the risk of developing primary varicose veins.
SNP rs9880192 is located on the RPN1 gene on chromosome 3.
The C allele increases the risk of developing varicose veins.
There are many natural remedies and tips that one can try to relieve the symptoms. Some of these are:
Foods that contain flavonoids may also help.
Flavonoids-rich foods are:
Butcher’s broom is a medicinal plant, whose roots are popularly consumed to relieve blood circulation problems like poor circulation in the legs, chronic venous insufficiency, leg cramps, swelling, heaviness, and pain.
It is usually taken by mouth and is also said to be helpful for gallstones, kidney stones, and atherosclerosis.
In the case of varicose veins, consuming butcher’s broom is said to cause narrowing or constriction of blood vessels, thereby preventing the pooling of blood.
Here’s what you can do:
Regular physical activity is said to be essential for a long and healthy life.
Regular fitness regime and exercise are also said to be useful to prevent its development and relieve symptoms in those with the condition.
Though there is no conclusive evidence that exercise improves the condition, it is said to have some visible effects.
Performing physical activity regularly improves blood circulation in the body, especially the legs, and prevents blood from pooling in the legs.
Also, exercising helps you to maintain a healthy weight and prevent obesity, which is a high-risk factor for this condition.
Some common exercises that are both light and useful exercises that you can do for are:
A large number of women experience varicose veins during their pregnancy.
An increase in the blood supply and hormones are jointly responsible for this.
During pregnancy, a woman’s body has about 20% more blood than her non-pregnant body, which causes all the blood vessels to dilate, including the veins in her legs.
Due to this dilation of blood vessels, the valves that prevent the backflow of blood get stretched and damaged, thereby leading to the pooling of blood and subsequently, the condition.
Also, hormones such as estrogen and progesterone, further cause dilation of smooth muscles, including those of the blood vessels, which further aggravates the condition.
Upload your DNA raw data to Xcode Life. Our Gene Skin Report analyses psoriasis, contact dermatitis, rosacea, cellulite, stretch marks, and 20 more such traits.
The ALPL gene codes for the tissue non-specific isoenzyme called Alkaline Phosphatase (TNSALP).
This enzyme is responsible for the growth and development of bones and teeth.
It is also found in other organs such as the liver and kidneys.
Over 300 mutations have been observed in this gene in people with hypophosphatasia, an inborn error of metabolism.
Such mutations lead to the formation of a defective TNSALP which prevent effective mineralization of the bones and teeth.
When these ALPL gene mutations eliminate the activity of TNSALP, it results in severe forms of hypophosphatasia.
This condition has either an autosomal recessive or autosomal dominant pattern of inheritance.
Vitamin B6 is composed of three closely related compounds – Pyridoxine, Pyridoxal, and Pyridoxamine.
These compounds metabolize to form Pyridoxal phosphate that acts as a coenzyme in many important reactions in the body.
Vitamin B6 is responsible for the formation of heme (an iron-containing compound which is a part of hemoglobin molecule ), synthesis of nucleic acids, lipid, carbohydrate, and amino acids.
When the body is unable to get the required amount of vitamin B6, it leads to a deficiency of the vitamin.
We meet our daily requirements of vitamin B6 from the food we eat, and therefore, a dietary deficiency is quite rare.
But, one can be deficient in vitamin B6 due to other secondary causes.
Primary vitamin B6 deficiency is rare in the general population.
But, secondary causes such as digestive troubles, kidney or liver troubles can still lead to vitamin B6 deficiency.
The common signs and symptoms of vitamin B6 deficiency are:
This is one of the first signs that appear in an individual with vitamin B6 deficiency.
The tongue becomes sore, red, swollen, and smooth (due to loss of tongue papillae). This condition is known as glossitis.
Another characteristic feature of vitamin B6 deficiency is cracked, swollen, and red lips along with cracked corners of the mouth.
This makes it difficult to perform regular activities such as talking, eating, and yawning.
Vitamin B6 deficiency causes peripheral neuropathy, which is characterized by tingling or burning sensation in the hands and feet.
Vitamin B6 deficiency commonly causes lethargy, tiredness, and fatigue in the body.
Vitamin B6 deficiency is also associated with weakened immune function, making the individual more susceptible to infections.
This happens because vitamin B6 is involved in the production of WBCs and antibodies.
Vitamin B6 is involved in the synthesis of neurotransmitters such as serotonin. Thus its deficiency leads to irritability, anxiety, and mood swings.
Vitamin B6 deficiency can be of two types:
But, dietary vitamin B6 deficiency is very rare as many foods that we regularly eat contain adequate amounts of vitamin B6.
[table “111” not found /]
SNP rs1780316 is located on chromosome 1 and is associated with the risk of vitamin B6 deficiency.
A trial study conducted on stroke prevention showed that rs1780316 has genetic associations with plasma B12, B6, and folate levels in people with ischemic stroke.
The T allele of the SNP rs1697421 has also been associated with vitamin B6 levels in the body.
The normal range of the biologically active form of vitamin B6 (pyridoxine) is 5-50 µg/L.
There is a lot of speculation about whether vitamin B6 causes weight gain.
But, the fact is that vitamin B6 by itself does not contain calories, and therefore, it cannot cause weight gain.
However, the foods that are rich in vitamin B6 can cause weight gain.
As mentioned earlier, many commonly consumed food items are rich in vitamin B6. These include:
MC1R or melanocortin-1 receptor gene plays an important role in the normal pigmentation process in the body.
The gene encodes the receptor for the Melanocyte Stimulating Hormone (MSH), which is one of the two hormones that regulate pigmentation.
The MC1R receptor is also known as the melanocyte-stimulating hormone receptor or the melanotropin receptor.
Polymorphisms in the MC1R gene reduce the ability of the MC1R receptor to stimulate eumelanin production. This leads to melanocytes making more pheomelanin.
The MC1R receptor is active in cells other than melanocytes as well. These include cells involved in the body’s immune and anti-inflammatory responses.
Several SNPs are associated with this MC1R gene. They are primarily linked to fair skin, red or light hair and freckles.
They also show a varying risk of melanoma and non-melanoma skin cancers.
The SNPs of the MC1R gene also influence responses to opioid analgesics that are used to treat pain.
Research shows that opioids are more effective in females with red hair, and light skin and have lesser MC1R protein activity.
Small, brown spots often present in the sun-exposed areas of the skin are called freckles.
They are almost always harmless and appear due to the overproduction of melanin in response to UV stimulation.
Freckles are essentially of two types: Ephelides and solar lentigines.
Ephelides are freckles that occur as a result of sun exposure.
Anyone who is exposed to sun rays or UV rays can develop these spots on their face, back of their hands and on their upper body.
This type of freckles is common in people with light skin and is generally seen in individuals with Caucasian and Asian descent.
The second type of freckles is called solar lentigines. It is a patch of dark skin that is harmless in nature and tend to appear in older Caucasians (above the age of 40yrs).
Freckles, as we now know, occur as a result of melanin that builds up under the skin, forming the spots.
There are two primary causes that have been cited for the development of freckles:
So, we see freckles developing after a brief exposure to the sun.
Freckles tend to become darker on increased sun exposure and can also disappear when skin cells are replaced.
The human body produces two types of melanin – eumelanin (that protects the skin from sun’s UV rays) and pheomelanin (no protective function).
But, the type of melanin an individual produces depends on the MC1R gene.
Our skin shows different types of pigmentations – moles, freckles, birthmarks, age spots, and sunspots.
But, how can we differentiate freckles from other similar looking marks?
Freckles, on exposure to the sun, appear as flat pigmented spots in clusters over a larger area of the skin.
They are irregular in shape but have clearly defined edges.
They are brown, tan or red in color and not more than 1-2 mm in size.
Individuals with lighter or fair skin are at an increased risk of developing freckles and therefore, must take extra precautions before stepping out in the sun.
These individuals are also at a higher risk of developing skin cancer.
There are some SNPs on the MC1R gene that are associated with freckles, fair skin, and UV rays:
The T allele of SNP rs1540771 is said to be associated with 1.26x risk of freckles, and UV sensitivity and brown hair.
The rs1042602 SNP on the TYR gene is polymorphic in Europeans and the A allele derived from it is associated with light/fair skin, eye color and the absence of freckles.
rs1805008 is also known as Arg160Trp or R160W and is one of the many SNPs that is found in the MC1R gene and is associated with red hair color, especially in the Irish population.
The T allele increases the risk of melanoma in this population with individuals having CT being carriers of red hair and a higher risk of melanoma compared to those having CC alleles.
Individuals with TT alleles have 7-10 times more chance of having red hair and at a greater risk of developing melanoma.
Despite the genetic contribution to freckles, no one is actually born with it.
Freckles appear when an individual is exposed to the sun.
They tend to become darker during the summer months and fade away during the winter.
However, there are a few treatments and home remedies that one can use to get rid of these freckles.
Those who are prone to freckles must apply sunscreen every time they step out.
Using a sunscreen of SPF 30 or above can help the formation of new freckles but cannot help you get rid of the existing ones.
There are different types of lasers that target specific areas in the skin.
It can take about 2-3 weeks to recover from the treatment and more than one session is needed for achieving the desired results.
The retinoids in the cream help absorb UV B radiation and prevent the formation of new lesions.
This method can be used to treat or get rid of freckles but it can have some side effects such as hypopigmentation or blistering, but it rarely causes scarring.
The hydroquinone present in these creams suppresses the production of melanin and helps lighten the darkened areas of the skin.
When the damaged skin heals after a chemical peel, new skin appears without the freckles.
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Topical application of vitamin C is believed to reduce or lighten skin spots.
It also helps the skin heal from sun damage.
Sunspots, also called liver spots, are flat pigmented lesions that appear on the skin on exposure to the sun.
They are harmless in nature and are non-cancerous.
They appear in different shades of brown. Individuals who are over the age of 40 years are more prone to it.
Sunspots are commonly seen on the face, back of the hands, shoulders, and back.
Sunspots occur due to:
Yes. Sunspots can be lightened or even removed completely using various home remedies and cosmetic procedures.
The cosmetic procedures need to be performed by a trained professional only and include procedures such as cryotherapy, microabrasion, chemical peels, laser treatment, or use of intense pulse light.
The antioxidants and active compounds in the tea are believed to bring about this effect.
The acetic acid present in vinegar is believed to help lighten skin pigmentations.
Lactic acid present in these substances is believed to bring about the required change.
Individuals with the rs885479 SNP of the MC1R gene having A allele had an increased risk for developing sunspots.
This is an SNP of the MC1R gene and is also called as Val92Met or V92M.
It is associated with light and deep red hair and skin that is prone to sunburn.
The presence of the A allele increases the risk of an individual to developing sunspots.
You might also be interested in: A Guide To Analyze Your Genetic Variants For Psoriasis
Tanning is a phenomenon wherein your skin darkens on exposure to the UV rays of the sun.
When exposed to the sun, your body produces melanin as a protective mechanism to absorb the harmful UV rays and protect the skin cells.
This excess melanin production leads to darkening of the skin.
Excessive absorption of UV radiation can cause sunburns.
It is quite common to see people getting a tan for the recreational purpose either by sunbathing (lying in the sun) or by using a tanning lamp found in indoor tanning beds.
One can also get a tan by using chemicals, an activity is known as sunless tanning.
When we walk out into the sun without sunscreen or have some parts of our body exposed, we are putting our skin cells at great risk of sun damage.
We often notice that when a dark-skinned individual is exposed to the sun, they tend to get darker, whereas light-skinned individuals turn red.
These changes in body color are due to the melanocytes producing melanin, resulting in tanning or sunburn.
Production of melanin in response to sun exposure is a protective function of the melanocytes.
Melanin absorbs the harmful UV radiations and protects the other skin cells.
So, the next time you sunbathe to get a tan or inadvertently get one while walking in the sun without sunscreen or adequately cover your body, you know why your body is getting tanned.
A tan may be a fashion statement, but just like sunburn, it is a form of skin damage and can put one at risk of developing cancer in the future.
Melanoma is the term given to cancer that develops from skin cells called melanocytes.
It is also known as malignant melanoma and is a leading cause of death globally.
There has been a rise in melanoma cases primarily due to increased exposure to sun while sunbathing and indoor tanning devices.
The increase melanocyte in response to the UV rays is a grave risk factor for melanoma.
There are many useful home remedies we can try to get rid of tan or at least lighten the color.
These include vitamin C, vitamin E, glycolic acid, retinoids, etc.
It contains antioxidants that help lighten the skin and also heal and soothe the damaged skin.
Care should be taken to avoid any harsh chemical lighteners, peels, bleaches, etc., on tanned or sunburnt skin as they can aggravate the damage already done to the skin.
You might also want to read: Get flawless skin in 7 days
rs1805009 is an SNP that is known as Asp294His and is located on the MC1R gene. It is a variant that is linked with red hair and a low tendency to tan.
[table “105” not found /]rs2228479 is an SNP that is present on the MC1R gene and is associated with skin pigmentation. The A/A allele increases the individual’s susceptibility to melanoma whereas the G/G allele shows a lower risk.
https://www.snpedia.com/index.php/MC1R
https://ghr.nlm.nih.gov/gene/MC1R#synonyms
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977302/
https://www.snpedia.com/index.php/Rs2228479
https://en.wikipedia.org/wiki/Sun_tanning
https://www.snpedia.com/index.php/Rs2228479
Vitamin D is responsible for bone strength in the human body.
It helps the body utilize the calcium absorbed from the diet effectively.
Some natural sources of vitamin D include sunlight and a variety of foods like fish, egg yolk, fortified dairy and grain products, etc.
Insufficient vitamin D supply causes a serious condition called vitamin D deficiency.
Approximately, 1 billion individuals worldwide, that is, nearly 15% of the world's population have this deficiency.
Most people tend to oversee the signs and fail to realize that they have this deficiency. Here is what can be looked out for:
Certain medical conditions can predispose an individual to be deficient in vitamin D levels. These include:
You may also be interested in: What do genes tell us about vitamin D requirements?
Research suggests that vitamin D deficiency is linked to many serious disorders like:
Very few food items naturally contain vitamin D. Including them in your diet would greatly help alleviate vitamin D deficiency.
Research has identified four genetic variants that are associated with vitamin D deficiency.
These genes are involved in metabolization and transportation of vitamin D in the body.
More such genetic variants inherited, the higher the risk for low vitamin D levels in the body.
Vitamin D Receptor (VDR) gene is responsible for making a protein called vitamin D receptor protein where the active form of vitamin D binds to.
Hand-picked content for you: Know your genes: VDR "The Sunshine Vitamin Gene"
rs731236 is a 3′ variant in the VDR gene.
This SNP affects a T > C methylation site, which translates to impaired absorption of vitamin D components and their transport, and results in bone weaknesses and other symptoms.
[table “97” not found /]This SNP in the VDR gene has also been linked to many other diseases like breast cancer and multiple sclerosis.
In addition, it is associated with Restless Legs Syndrome (RLS), in which there occurs an irresistible urge to move the legs.
Upload your DNA raw data to Xcode Life. Our Gene Nutrition Report analyses choline needs, gluten sensitivity, lactose intolerance, vitamin needs, and 33 more such categories.
Psoriasis is a common autoimmune chronic skin condition that is characterized by scaly, red patches on the skin that are itchy.
These scaly patches on the skin are formed by accumulated skin cells.
The symptoms of psoriasis vary from person to person.
However, common psoriasis symptoms include:
The symptoms of psoriasis occur in cycle i.e the patches flare-up in some months of the year and subside in the other.
In about 10-30% cases, psoriasis has been associated with psoriatic arthritis wherein the patient has swollen and aching joints along with the skin lesions.
The exact cause of psoriasis is unknown.
However, researchers have been able to point out misdirected immune system as a key contributor to this condition.
In normal cases, the body’s immune system gets activated when a foreign body or particle enters the body.
However, in individuals with psoriasis, some genes that are defective cause inflammation on exposure to certain substances and trigger the skin cells to start multiplying.
There are about twenty-five genes that are suspected to cause psoriasis.
Stress is one of the primary and the most important causative factor for many skin conditions, including psoriasis.
Though stress is a mental pressure, the body reacts to it in the same way as it does to physical pressure.
Thus, sudden, chronic and excessive stress levels can trigger psoriasis.
Psoriasis can flare-up due to hormonal changes in the body, especially around puberty, menopause, and pregnancy.
These three situations where there is a drastic change in the hormonal levels in the body.
Smoking is known to cause pustular psoriasis.
Individuals with a history of psoriasis are twice as likely to develop the condition if they smoke.
The lesions primarily appear on the palms and the soles of feet.
There are some medications that can trigger or make existing psoriasis worse.
These include antimalarials like chloroquine, hydroxychloroquine, and quinacrine, beta-blockers, ACE inhibitors, and quinidine, indomethacin, and lithium in some medicines.
Some disease conditions like HIV and other infections like respiratory infections can also cause a flare-up of psoriasis.
Researches have shown genetic factors to play a key role in the development of psoriasis.
There are many genes that are associated with psoriasis, which includes:
FUBP1 (Far Upstream Element Binding Protein 1) protein encodes a single-stranded DNA-binding protein that binds to multiple DNA elements and has a 3’-5’ helicase activity.
It binds to viral RNA is thought to play a role in the development of viral diseases.
Apoptosis or programmed cell death is now associated with the pathogenesis of many inflammatory skin disorders, including psoriasis.
The Fas or FasLigand gene (FASLG) is one of the best-known mechanisms for the induction of apoptosis and is crucial in the onset of psoriasis, promoted by activated lymphocytes.
Fas-mediated cell-death prevents autoimmune reactions by removing the active T-cells from the medium, resulting in an immune reaction.
The single nucleotide polymorphisms of the Fas cell surface receptor gene and the Fas Ligand gene (FASLG) in the promoter region affect the expression of these genes and their serum levels.
These levels are important in patients with psoriasis.
This gene is located on chromosome 1q32.1.
The IKBKE (Inhibitor of Kappa light polypeptide gene enhancer in B-cells, Kinase Epsilon) is known as a psoriasis-related protein that is needed for the regulation of anti-viral and anti-inflammatory pathways.
In fact, the TNF- alpha that exists on the IKBKE upstream pathway has been used as a psoriasis drug target.
ZNF365 (Zinc Finger 365) gene codes for several isoforms, each of which has a different expression pattern and functions.
A mutation in this gene is associated with uric acid nephrolithiasis.
The gene is involved in the homologous recombination (HR) repair pathway and is required for the proper resolution of DNA by HR.
It also contributes to genomic stability by preventing telomere dysfunction.
PTEN (Phosphate and Tensin Homologue) gene is present on chromosome 10 and when it is deleted, it acts as a major tumor suppressor and inhibits cell proliferation through inactivation of the PI3 kinase(PI3K)/ Akt signal pathway.
The downregulation of the PTEN gene may play a role in the overactivation of the PI3K/ Akt signal pathway in psoriatic lesions and correlate with the excessive proliferation of the lesions.
The G allele of rs76959677 is said to be associated with psoriasis.
CHUK (Conserved Helix-Loop-Helix Ubiquitous Kinase) enzyme is involved in inhibiting the actions of NF-κB as it plays a role in its transcription.
Individuals with this SNP were associated with response to etanercept.
Psoriasis has a multifactorial pattern of inheritance, which means that it occurs due to a complex interplay between genetic and environmental factors.
The genes from both parents and environmental factors determine if the individual develops the condition or not.
However, there have been reports where the disease appears to have an autosomal dominant or autosomal recessive pattern of inheritance.
A research study conducted by Swanbeck et al calculated the lifetime risk of developing psoriasis in individuals with no parent, one parent and both parents having the condition.
The results did show an increased susceptibility in those with one or both parents having psoriasis.
Psoriasis cannot be cured completely.
However, the symptoms can be managed and flare-ups can be reduced using medications, lifestyle changes, and diet.
Though not scientifically conclusive, there has been considerable evidence to show that changing to a healthier diet can help reduce flare-ups and enable better management of the symptoms of psoriasis.
Some components of foods such as omega-3 fatty acids, antioxidants, and anti-inflammatory substances are said to be helpful to reduce flare-ups and help in better management of the condition.
You might also like: Secret Behind Celebrities Who Have No Stretch Marks
There are multiple ways to reduce the symptoms and prevent flare-ups, and many of these are home remedies.
Perfumes, soaps, deodorants, shampoos, etc which have fragrances in them as they contain dyes.
The dyes in these fragrant products lead inflammation of the skin and cause a flare-up of psoriasis.
Before you choose a product, make sure it has a ‘sensitive’ label on it or consult your dermatologist for the right products for you.
It helps to soothe the itchiness of the lesions.
People with psoriasis must make sure their skin never gets dry as it can lead to an increase in the lesions.
Avoid excessive exposure to sunlight as it can aggravate psoriatic lesions.
An individual with psoriasis must avoid stress, a primary cause of flare-ups.
Practicing stress-relieving methods can help manage psoriasis effectively.
Alcohol is a big-no for those suffering from psoriasis and so an individual with the condition must avoid consuming it.
Apply turmeric on the lesions, adding them to your food or consuming it as a pill, within limits (1.5-3 gms per day) has proven to be beneficial to those suffering from psoriasis.
Consuming adequate amounts of vitamins and minerals proves helpful to reduce the psoriatic lesions.
External application on the lesions using some herbal products is very helpful. These include aloe vera, apple cider vinegar, dead sea salts, oats, tea tree oil, and Oregon grape.
There is a misconception that psoriasis is infectious, however, it does not spread from one person to the other.
But it is quite common to see the lesions spread to other parts of the body.
In many cases, the lesions also coalesce to form larger lesions.
There are many ways to prevent the spread of psoriasis in an individual, but it also depends upon the type of psoriasis.
Plaque psoriasis, which the most common type that affects people spreads to elbows, knees, and scalp.
A rare type of psoriasis known as erythrodermic psoriasis is a more dangerous form which spread to all parts of the body.
In many instances, people with one type of psoriasis can develop another type of disease.
If left untreated, psoriasis lesions can spread and become more intense.
Xcode Life's Gene Skin Report analyzes the genetic variants for psoriasis, acne, dry skin, freckles, contact dermatitis, and more than 20 such traits.
Vitamin A is important for good vision, healthy eyes, healthy skin, and to fight infections.
Yet, it cannot be synthesized by the body.
Therefore, it becomes an essential nutrient that needs to be included in the diet.
Conversion of beta carotene to vitamin A is an important metabolic pathway which is genetically influenced.
Vitamin A refers to the interconvertible compounds retinal and retinol.
Both these can be converted into various other metabolites that are functionally important.
The transformation into these metabolites is irreversible.
Retinoic acid is one such metabolite.
Foods like milk, liver, fish oil, and eggs contain preformed vitamin A.
Beta carotene found in carrots and green leafy vegetables can be converted in the body into vitamin A, an important source for vegetarians.
Beta carotene is an ideal provitamin A carotenoid, and it needs to be converted into active vitamin A in the body.
Carotenoids are found in plants, and they are responsible for the distinct colors that some fruits and vegetables boast of.
Carrots get their orange color because of beta carotene.
According to the National Institute of Health, the following are the recommended units for the daily intake of beta carotene:
Once it is consumed, beta carotene is converted into vitamin A, which is then utilized by the body for various functions.
It is estimated that nearly 50% of vitamin A in a diet is due to beta carotene and other such carotenoids.
The major organs that are associated with beta carotene conversion are the liver and the intestines.
The liver is associated with storing significant proportion of retinoid.
There are two enzymes associated with beta carotene conversion to vitamin A, including:
Converting beta carotene to vitamin A is extremely variable with the estimated number of low responders to dietary beta carotene as high as 45%.
Genetic variants in the BCMO1 gene are associated with the conversion of beta carotene into retinol.
Check your Ancestry DNA or 23andMe raw data results for SNP rs7501331 that you carry
[table “64” not found /]Check your Ancestry DNA or 23andMe raw data results for SNP rs12934922 that you variants
[table “65” not found /]Enzyme activity based on genetic variant carried
A study by researchers from Newcastle University showed that individuals who carry the T allele of rs7501331 have a 32% reduction in enzyme activity while individuals who carried T allele for both rs7501331 and rs12934922 had a 69% reduction in enzyme activity.
A more recent study by researchers from the same university showed that apart from these two genetic variants in the BCM01 gene, there were other variants that had an influence on enzyme activity.
Other variants of interest are rs11645428, rs6420424, and rs6564851.
Vitamin A is important for vision and is used in the treatment of cataracts and age-related macular degeneration.
It is also important for the skin and immune system.
Vitamin A deficiency is major public health across the world. Each year, approximately 250,000–300,000 vitamin A-deficient children become, and half of them have been reported to die within a year after getting blind.
The following are some of the symptoms of vitamin A deficiency:
Hand-picked content for you: Genes can Influence your Vitamin A requirement- Here’s how
Beta carotene is considered pre-vitamin, but it also is known to have certain benefits.
Each carrot is known to contain about 10 - 50 mg of beta carotene, apart from other nutrients.
The following are some of the foods rich in beta carotene
[table “66” not found /]Excess of retinoids is known to lead to teratogenic effects.
High levels of beta carotene are known to increase the risk for certain types of cancers.
One study found that there was an increased risk of lung cancer after β-carotene supplementation among smokers and people who drank more than 11 g ethanol/d.
High levels of beta carotene can affect the skin and lead to a condition known as carotenodermia.
The soles of the feet and the palms turn yellow.
Too little beta carotene or too much both have their share of risk, which makes genetic testing for vitamin A needs important.
How well your body converts beta carotene into retinol or vitamin A will help you identify the amount of beta carotene that should be consumed, from the diet or as a supplement.
Upload your 23andme raw data or any other ancestry raw data to avail Xcode Life’s Gene Nutrition Report can be used to identify your vitamin A needs.
Does your 23andme, Ancestry DNA, FTDNA DNA raw data have vitamin A information?
| CHIP Version | Vitamin A SNPs |
| 23andMe (Use your 23andme raw data to know your DRD2 Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA (Use your ancestry DNA raw data to know your DRD2 Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA (Use your FTDNA raw data to know your DRD2 Variant) | |
| OmniExpress microarray chip | Present |
