Genetics of Celiac Disease July 25, 2006Posted 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.