SNPwatch: Genetic Variations Associated with Autoimmune Form of Hair Loss, Alopecia Areata

Alopecia areata is a form of hair loss many people are unfamiliar with, although the condition affects more than five million people in the United States.  Unlike male (or, more rarely, female) pattern baldness, which is thought to be caused by hormones, alopecia areata results from an autoimmune attack on hair follicles.  It can lead to the loss of hair on the scalp and elsewhere on the body.  Men and women are affected equally.

As is the case for most autoimmune diseases, whether or not a person is affected by alopecia areata is at least partially determined by genetics.  But finding the genes responsible for the condition has so far not been very successful.  The first genome-wide association study of alopecia areata, however, has yielded a bumper crop of genetic variants associated with the condition.  These results, published online today in the journal Nature, not only shed light on biology behind alopecia areata, but may also guide the development of new treatments.

“This research is very exciting as alopecia areata affects a huge number of people worldwide, and there are very few treatments for it —resulting in an enormous unmet medical need,” said Vicki Kalabokes, president and CEO of the National Alopecia Areata Foundation, in a statement.

A team of researchers led by Angela Christiano of Columbia University analyzed the DNA of 1,054 people with alopecia areata and 3,278 controls, all of European ancestry.  They found 16 blocks of variation that showed significant association with risk for the condition.  Some of the variations the researchers found were, not surprisingly given the autoimmune nature of alopecia areata, in genes involved in the immune system.  But others were in genes turned on in the hair follicles themselves.

(The details of the strongest SNP from each of the 16 blocks are in a table at end of the post.)

One of the hair follicle genes identified in the study was ULBP3.  This gene encodes a protein that signals to the immune system that a cell is under stress or in danger and should be destroyed for the good of the rest of the body.  When the researchers looked at hair follicles under a microscope, they found that follicles from people with alopecia areata had higher than normal levels of ULBP3.  They also found that many of the immune cells attacking the follicles expressed NKG2D, the receptor that recognizes and binds to the protein.

More research will be needed to confirm these findings, but Christiano’s team suggests that in genetically susceptible individuals, increased ULBP3 acts as the initiating factor for the autoimmune response seen in alopecia areata.  If this is true, it could open up new avenues of treatment.

Because the symptoms of alopecia areata resemble those of psoriasis, another autoimmune disorder, doctors have tried treating the hair loss condition with the same treatments used for psoriasis.  But they have seen little success.  This new study shows why – very few of the genes involved in alopecia areata are also linked to psoriasis, suggesting that the diseases don’t share much similarity at the molecular level.

Many of the alopecia areata genes, however, have been linked to other autoimmune diseases, including type 1 diabetes, rheumatoid arthritis and celiac disease.  All of these diseases have also been connected to immune cells expressing the NKG2D receptor.  In a statement, Christiano explained that since drugs targeting this receptor are already in development for these other autoimmune disease, researchers may soon be able to test these same medicines in clinical trials for alopecia areata.

“Finally, we have the possibility of developing drugs that specifically target the mechanism behind the disease,” said Christiano.

SNPRisk VersionIncrease in Odds per Risk Copy T1.44 C1.32 T1.34 T1.65 C1.52 C1.32 A1.30 C1.41 G1.34 A1.32 G2.21 A1.95 C1.88 A1.70 G1.57 A1.33






  • Ilmari Kivinen

    I have Alopecia [Areata] Universalis.

    Of the 16 SNPs listed here, I have the Risk Version on many.

    Risk Version / my result

    T / CC – no increased odds
    C / AA – no increased odds
    T / GT – 1.34 increase in odds
    T / TT – double of the 1.65 increase in odds
    C / CT – 1.52 increase in odds
    C / CT – 1.32 increase in odds
    A / AA – double of the 1.30 increase in odds
    C / CC – double of the 1.41 increase in odds
    G / GT – 1.34 increase in odds
    A / AA – double of the 1.32 increase in odds
    G / GG – double of the 2.21 increase in odds
    A / GG – no increase in odds
    C / CC – double of the 1.88 increase in odds
    A / AG – 1.70 increase in odds
    G / AG – 1.57 increase in odds
    A / AG – 1.33 increase in odds

  • Sandy

    Very interesting, I have a lot of the “bad” versions of the gene, which I guess isn’t surprising since I am also at higher risk for rheumatoid arthritis and type 1 diabetes. I wish that 23andme would have included the overall prevalence of the disease so that people could better interpret their risk. For those who are curious, according to the National Alopecia Areata foundation, prevalence is 2% of the population.

  • Sandy

    Also, according to M.D. Anderson Cancer Center, 60% of those affected are under 20 years old.

  • Matthew Edwards

    I have alopecia. Not universalis (although my sister does). I have 14 of the 16 risks.

    T/CT – 1.44 increased odds
    C/AC – 1.32 increased odds
    T/GT – 1.34 increased odds
    T/TT – double increased 1.65 odds
    C/CC – double increased 1.52 odds
    C/CC – double increased 1.52 odds
    A/AG – 1.30 increased odds
    C/CT – 1.41 increaded odds
    G/TT – no increase
    A/AG – 1.32 increased odds
    G/AG – 2.21 increased odds
    A/GG – no increased odds
    C/CT – 1.88 increased odds
    A/AG – 1.70 increased odds
    G/AG – 1.57 increased odds
    A/AG – 1.33 increased odds

  • jezbel

    My maternal grandmother, whose hair was always fine and thin, started losing her hair in her 30′s, so I was told. By the time I was 10 years old she was probably in her late 50′s and was wearing a ladies hairpiece. My mother, whose hair was also fine and thing, started losing her hair in her late 30′s and started wearing a wiglet. They were both nearly completely bald by the time they each died. My younger sister whose hair was thick and curly began to lose her hair, also, in her late 30′s and has undergone 5 hair transplantation surgeries. She’s now in her mid-fifties and is losing hair which was not transplanted.
    We have always suspected that an immune disorder ran in the maternal family but no tests have ever come back positive in either my sister or myself, including the HLAB27 which indicates rheumatoid arthritis.
    My hair has always been fine but was ample until I was in my mid-fifties. It’s thinner but still mostly there. When I stopped taking mild hormone replacement therapy my hair started falling out in handfuls. I went back on hormones and it all came back.
    Having recently been on an oral steroid for a disc herniation, I noticed that my hair appeared thicker for the duration of the anti-inflammatory drug.
    This is a mystery surrounded by an enigma wrapped in a conundrum.

  • Sandra

    Hi, I don’t know how to interpret the SNP, but I have had hair loss since I was 151/2 yrs old. I don’t have diabetes or arthritis, and now that I’m older it’s falling more and more.

  • Matthew

    This is interesting! I just developed alopecia areata this past year (I’m 30)…. my father, his father and paternal uncles, and my older and immediate younger brother all had similar patterns around age 30, +/-2 years. Couple spots in the beard or neck, typically one relatively large spot on the side or back of the head. I’m being lazy about typing in my whole profile, but I’m heterozygotic on almost every gene listed here (presumably I have a “good” set from my mom).

  • Theresa

    I was diagnosed with alopecia areata back in 1990. I always have some bare spots in different places–they come and go, and differ in quantity and size. No treatment (including local injections of steroids and a trial of Rogaine) has ever been successful. I have 8 of the 16 risk versions (one copy of each); my brother, who does not have the condition, has 7. This research is of great interest to me!

  • William

    I have 9 out of 6 matches with 3 those showing double risk. I’m aware of a couple distant relatives with relatively thin hair but nothing approaching alopecia areata or universalis. Let’s hope researchers make some major headway in treating this. I can’t imagine what it must be like be a woman with this condition but I can say that having as a man wasn’t great either, especially during the 80s which was a very hair-centric decade.

  • http://www.johanna-abzug.com johanna

    I have Alopecia Areata. The first onset was a little over a year ago at age 22. Am still experiencing hair loss as well as major regrowth on past spots. Here’s my info.

    T/TT – double 1.44
    C/CC – double 1.32
    T/GG –
    T/CT – 1.65
    C/CT – 1.52
    C/CT – 1.32
    A/AG – 1.30
    C/CT – 1.41
    G/GG – double 1.34
    A/AA – double 1.32
    G/AA –
    A/GG –
    C/CC – double 1.88
    A/GG –
    G/AA –
    A/– no matching SNPs

  • http://none ceejaay

    No Alopecia Areata here

    T/CC –
    C/AA –
    T/GT – 1.34
    T/CT – 1.65
    C/CT – 1.52
    C/TT –
    A/AG – 1.30
    C/TT –
    G/GT – 1.34
    A/AA – 1.32
    G/AG – 2.21
    A/ – no call
    C/CC – double 1.88
    A/AG – 1.70
    G/GG – double 1.57
    A/ – no call

  • Mark

    I have had Alopicia since I was 18 months old. 44 years old now. I have my 23andMe raw data, but trying to determine how to read the genes listed here. eg. T/CC. It is not clear how to convert this to a Gene or a SNP to lookup and compare results. Can anyone provide guidance on how to browse raw data to compare this info?

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