Prefacing with I am not asking for medical advice and I have a blood test on Wednesday as the first step towards a possible diagnosis which my insurance is requiring before they will pay for the endoscopy. I am almost 100% certain I have undiagnosed celiac disease based on my symptoms but my DNA test is leading me into doubt. I keep reading you have to have one of two main gene sequences for Celiac disease to be a possibility but I am confused on whether I have them.
That said, I decided to go back and look through my old DNA results and found a few things that are confusing. First off, I have this pop up on promethease:
Gs221 This genoset tags the DQ2.2 haplotype in Europeans, and thus increased risk gluten intolerance and for autoimmune disorders such as celiac disease.
When researching I found that rs4713586 is apart of DQ2.2 for which I am (A,A) for.
rs3184504(T;T)slightly (1.4x) increased risk for celiac disease slightly increased resistance to bacterial infections
My confusion lies with the fact when I look more into the above gene, I find that T,T is typical and no increased risk but yet promethease is stating there is an increased risk. I also have the following listed as increased risk for Celiac disease:
rs2488457(G;G)Slightly increased (~1.7x) risk for certain autoimmune diseases in some populations See discussion and citations via main rs-page
I know these cannot be used as a diagnosis, just curious what the DNA says in regards to probability.
Read more here: Source link