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Genetics of Celiac Disease July 25, 2006

Posted by Sacha in Genetics, Research, Science.

I was recently diagnosed with gluten intolerance via a blood test.  While my doctor told me this doesn’t necessarily mean I have celiac disease (a disease characterized by intolerance to the proteins of wheat and other cereals), other people have argued with me that all people with gluten intolerance have celiac disease (CD).  Apparently the definition isn’t clear enough.  So, anyway, I decided to research this disease a bit. 

While I’m not sure my original question was answered, what I found that was interesting while reading about CD were the genetic factors.  According to this paper published in Human Immunology, 95% of patients carry the HLA-DQ2 molecule and of the other 5%, most carry HLA-DQ8.  However, CD develops in only a minority of HLA-DQ2 positive people.  In other words, although CD patients have a gene for it, not many with that gene have CD.  Scientists speculate that other genes and environmental factors affect whether or not a person actually develops CD.

If you want to read more about CD, I recommend the above article or this article from Gastroenterology on the prevalence, incidence, and progression of CD if you have access to journals, or this consensus statement from the NIH if you don’t. 



1. Wheat Free - August 27, 2006

Sacha – I was diagnosed with dermatitis herpetiformis, the epidermal expression of gluten intolerance six months ago. Some get a stomach ache, I get a rash. I’ve been reading up on Celiac for months now and my experience follows yours very closely. There is little that people agree upon and with the medical community lacking a clear vision, almost everyone gets to be an armchair physician. You aren’t alone in your frustrations!

I’m hoping to clear up some of this by attending the 12th annual international symposium on Celiac’s (http://www.celiacdiseasecenter.columbia.edu/symposium/index.html) in NYC this November. I’ll let you know if I find anything that helps clear things up. If you’re debating following the Gluten Free (“GF”) diet, I highly recommend it. Seeing your symptoms go away so quickly is very rewarding.

2. Sacha - September 30, 2006

Wheat Free,

Thanks so much for sharing your experience. That symposium sounds like a great experience. Please do come back and share what you learn.

For people already on a selective diet, we need more evidence than a naturopath’s hunch to cut out something as central to the American diet as gluten. Did you get any of the tests done or was it trial and error?


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