Behcet's Syndrome Society
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Neanderthal DNA, Genetics, and Behcet's Disease

This week, the full high-quality genome sequencing of Neanderthals' DNA was made available for free online. Research into cross-breeding between Homo Sapiens (modern humans) and Neanderthals demonstrates sharing of some DNA that's important for the immune system.

However, researchers believe that these shared genes may also be responsible for autoimmune diseases. The allele most closely associated with Behcet's Disease, HLA-B51, has been specifically identified as one coming from Neanderthals. Therefore, those of you with a positive HLA-B51 (especially subtypes B510101 or B5108) might have been susceptible to developing an autoimmune disease like Behcet's because of this foreign Neanderthal DNA in your genes.

Of course, much more research needs to be done on these and similar findings, and this will be made easier now that Neanderthal DNA is available online for free. For example, are all autoimmune diseases triggered by having foreign Neanderthal DNA? No one knows yet. What about those of us with Behcet's who test negative for HLA-B51, like me?

What is known so far about the genetics of Behcet's is complicated and preliminary:

Info about this Behcet's/Neanderthals connecction was first reported two years ago (see link below). So the only new information is the full Neanderthal DNA being published online this week, hopefully so researchers around the world can conduct more studies -- especially into the genetics of autoimmune diseases.

From 2011:

8 Replies

Hi Amietamant

Interesting. Fairly sure I tested negative.



Nah, Les. With eyebrows like that I'm sure there must be some neanderthal in there somewhere...

(eta: nothing wrong with your eyebrows, I'm just using them as a prop for a rather childish joke...)


more recent article

Genetic Mystery of Behcet's Disease Unfolds Along the Ancient Silk Road

"Genetic factors are thought to play a role in susceptibility to Behcet's disease, with the human leukocyte antigen (HLA) B-51 gene region of the genome, accounting for about 20 percent of genetic risk for the disease.


Among the newly identified regions, researchers found:

An important association between Behcet's disease and a gene called ERAP1. ERAP1 codes for a molecule that processes microbial proteins in white blood cells. Variants of this protein can lead to more or less efficient processing of microbial proteins before they are loaded onto HLA molecules for presentation to the immune system. The variants of ERAP1 identified in this study increase the risk of Behcet's disease, but only in those individuals with one specific HLA type, HLA-B51, which has previously been associated with Behcet's disease. Dr. Kastner speculates that the ERAP1 variant associated with Behcet's disease processes microbial proteins in such a way that they can be loaded onto the HLA-B51 molecule to trigger an abnormal immune response. The very same variant of ERAP1 that is associated with Behcet's disease is protective for ankylosing spondylitis and psoriasis, but only in people with the HLA types associated with those diseases.

A significant association of Behcet's disease with variants near the CCR1 gene. Proteins coded by this gene help infection-fighting blood cells migrate to sites of invading microorganisms. When this function is defective, the microorganisms can trigger a persistent inflammatory response.

An association of the disease with variants in the KLRC4 gene. The function of the receptor protein coded by this gene is not well understood, but the researchers suggest that it may be important to investigate further because it is located within the genomic region with the strongest evidence for linkage to a disease gene in a study of Turkish family health histories in which members sometimes have a rare familial form of Behcet's disease.

An association with the STAT4 gene, in which different variants in the same vicinity of the genome increase risk for autoimmune diseases, including rheumatoid arthritis and lupus."


Is this why I have to shave my armpits so often?

I'm probably positive for the neanderthal gene ....:-)


grunt......grunt.......*sniffs private bits to identify if friend or foe*

Slinks off dragging other half by the hair to hunt dinosaur for dinner in Sainsburys.


I have been diagnosed with Bd and I tested positive!

They confirmed my Bd with that.


I tested positive for the HLA-B51 and I'm currently researching this great subject!


I tested positive for the gene and also have Brackets


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