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Thread: Gene associated with gray hair discovered.

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    Gene associated with gray hair discovered.

    Study finds first genetic links for gray hair, beard thickness, and unibrows

    Ever wonder why your hair goes gray? Researchers have long known that a slowdown in the production of melanin, the pigment that colors hair, is to blame. But they don’t know precisely what starts the slowdown, or how the mechanism varies between populations. Now, in a study that looked at the genomes of more than 6000 people from Latin America, researchers have identified 18 genes that appear to influence hair traits, including the first ever to be associated with graying. The gene variant linked to graying is found only in people with European ancestry, and it has previously been associated with light hair colors. Other firsts include genes associated with unibrows, eyebrow thickness, and beard thickness, the researchers report today in Nature Communications. The participants’ diverse backgrounds, which included African, European, and Native American ancestry, helped reveal relationships between genes and hair that would have been hidden in more homogeneous populations. Researchers say the discoveries could help investigators predict what suspects look like based on genetic evidence. Someday, they add, the findings might even help drug developers find targets for medications to delay hair graying.
    http://www.sciencemag.org/news/2016/...s-and-unibrows

    http://www.nature.com/ncomms/2016/16...omms10815.html


    rs12203592 T associated with gray hair. I got CC for rs12203592. I actually thought I would get the allele for graying cause my father was full gray at his 30's.
    Last edited by Hanna; 03-02-2016 at 04:52 PM.

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    Gene for greying hair identified

    http://www.cbc.ca/news/technology/gr...472243?cmp=rss

    They may not have settled the enduring debate over whether grey hair makes a person look distinguished or just plain old, but scientists have identified for the first time a gene behind greying hair.
    Researchers said on Tuesday an analysis of DNA from more than 6,300 people from five Latin American countries enabled them to pinpoint a gene that affects a person's likelihood of getting grey hair.
    The gene, called IRF4, is involved in regulating melanin, the pigment responsible for hair color as well as the colour of the skin and eyes.
    People with a certain version of the gene are predisposed to hair greying, according to University College London human geneticist Andres Ruiz-Linares, one of the researchers in the study published in the journal Nature Communications.
    The researchers said hair greying is not driven exclusively by genetics, with other factors in the mix such as stress or experiencing a traumatic event.
    "This is really the first study on the genetics of hair greying in humans," University College London statistical geneticist Kaustubh Adhikari said.
    Prevention, reversal may be possible

    People spend a lot of time and money dyeing grey hair back to their natural hair color. The researchers said identifying this gene could offer a path forward for developing a treatment that could prevent or reverse greying.
    "A drug that has effects on the melanin-production pathway in hair follicles as the follicles develop internally might reduce the need to apply external hair dyes on the scalp hair after it comes out. This is certainly a research avenue worth pursuing," Kaustubh said.
    The researchers combed through genetic information from men and women in Brazil, Colombia, Chile, Mexico and Peru, with a combination of European, Native American and African ancestry.
    European ancestry

    The gene variant predisposing people to early hair greying was essentially only seen in those of European ancestry.
    "This might, to some extent, explain why hair graying is more common in Europeans than in other populations," Ruiz-Linares said.
    One of the researchers brushed aside the issue of whether or not grey hair is attractive.
    "Personally I don't have much of a view regarding the social response to hair greying, but I find it an interesting model to study aging in general," said Desmond Tobin, a hair follicle and pigmentation biologist at Britain's University of Bradford.
    The study also identified genes related to other hair traits including curliness, beard thickness, eyebrow thickness and
    predisposition for eyebrows that join together, known as unibrow or monobrow.

    The IRF4 variant in question seems to be rs12203592. From the study:

    http://www.nature.com/ncomms/2016/16...omms10815.html
    The colour of hair results from melanin pigments transferred to hair fibre keratinocytes from hair follicle melanocytes. These melanocytes differentiate from melanoblasts that migrate from the neural crest into hair follicles early in development6. Some hair follicle melanoblasts remain undifferentiated and serve as stem cells for the periodic replenishment of mature melanocytes, melanogenesis occurring only in the anagen phase of the hair growth cycle. Among the several hundred gene products known to participate in melanogenesis, recent association studies have identified a handful that influence hair colour variation in Europeans13. Most of these associations have been replicated here (Table 1), including that of the derived T allele at SNP rs12203592 in IRF4 with lighter hair colour. It has been shown experimentally that IRF4 interacts with the microphthalmia-associated transcription factor (MITF, a key regulator of the expression of many pigment enzymes and differentiation factors), to activate the expression of TYR (a rate-limiting essential enzyme in melanin synthesis). The derived T allele at rs12203592 leads to reduced TYR expression and melanin synthesis, consistent with the association of this allele with lighter hair colour41. In line with the geographic distribution of light hair colour, the T allele at rs12203592 is essentially absent outside Europe (Supplementary Table 7). Interestingly, we find that the T allele at SNP rs12203592 is also associated with increased hair greying. Experimental evidence suggests that the mechanism of hair greying involves incomplete maintenance of melanocyte stem cells in the hair follicle6. Importantly, MITF is known to affect melanocyte survival via its regulation of anti-apoptotic Bcl2 expression, a key factor in protection of the hair follicle against oxidative stress6. To probe the mechanism by which IRF4 might impact on hair greying, it will therefore be important to evaluate whether the T allele at rs12203592 influences MITF in terms of melanoblast stem cell maintenance and survival or via melanocyte loss post differentiation.


    rs12203592 was previously identified by Strurm & Duffy (2012), "Human pigmentation genes under environmental selection", http://genomebiology.biomedcentral.c...-2012-13-9-248

    IRF4 (Ch6p25)

    The interferon regulatory factor (IRF) family is a group of DNA-binding transcription factors that are involved with downstream regulation of interferon signaling, with the IRFs primarily associated with immune system development and response. The possible association of IRF4s with melanocytic biology has been used as a diagnostic marker for various melanoma subtypes [94]. Involvement with the melanin biosynthetic pathway was initially proposed when a GWAS identified a SNP in an intergenic region close to IRF4 displaying association with freckling [25]. Further genetic analysis has highlighted the rs12203592*C/T SNP, located in the fourth intron of the IRF4 gene and found to be strongly associated with hair color, eye color and skin tanning response to sunlight [16, 49, 95]. Chinese, Japanese and African populations are homozygous for the rs12203592*C allele, with only European populations possessing rs12203592*T. This SNP shows a north-south gradient across Europe, possibly indicative of a selective advantage [62, 96] and has been implicated in a strong genotype-by-age interaction on nevus count. Carriers of rs12203592*T possess higher nevi counts as adolescents, which reverses over age with adults possessing lower counts [97].
    You can look up yours at https://www.23andme.com/you/explorer...ame=rs12203592

    I have TT while both my maternal and paternal uncles have CT. I can verify that all members of my immediate family (father, mother & siblings of all genders) had our hair go prematurely grey.
    Last edited by VinceT; 03-02-2016 at 05:07 PM.

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    good post!

    I am very surprised about this...my dad was grey/siver by are 30 and I was half grey by age 30, full grey by mid 40's...yet I'm CC...I guess its the 'other' genes not specifically identified that did me in


    Gene Position SNP Versions Michael Whalen's Genotype
    IRF4 396321 rs12203592 C or T CC


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    Again, FTDNA doesn't have these alleles tested. I'm really going to go and get 23andme as well. I'm curious because on my mother's maternal side premature graying is the standard whereas on my father's side it's very late.

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    I got CC which makes sense in my case since my father is in his early 50s and doesn't have much gray hair.

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    Quote Originally Posted by drobbah View Post
    I got CC which makes sense in my case since my father is in his early 50s and doesn't have much gray hair.
    I always noticed that people with African ancestry gray late. I don't know if anyone else noticed that?

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    Quote Originally Posted by Hanna View Post
    I always noticed that people with African ancestry gray late. I don't know if anyone else noticed that?
    I could speak for Horners only but I have seen that most men and women would start graying by their forties.While I have seen people who started graying in High school and some don't even gray at all although these two extremes are in the minority.I think the main difference between Eurasians and Africans is probably when males become bald.

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    rs12203592 CC

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    I like the sentence,
    One of the researchers brushed aside the issue of whether or not grey hair is attractive.

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