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ChicRunner79

Help Interpreting Genetic Results

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Hello,

It's my first time posting here. I have been going through celiac testing since Nov 2011. The disease runs in the family, on my father's side. I'm the first of my immediate family to be tested. I have GI symptoms and a few other issues (headaches, allergies, vitamin deficiencies).

I did my first blood test in November for tTGA at a free clinic, and the results were negative/inconclusive. I went on a 30-day gluten free trial and had good results - a reduction of symptoms. When I added gluten back in, I got a migraine headache that day and many of my GI issues returned later. Since that test I've had two more blood tests for tTGA-IGA and serum IGA (one by my physician and one by a GI) and both turned up negative. However, both docs said the results aren't necessarily conclusive.

Given the family history and my gluten-free experience, the specialist did a genetic test. The results are below. The nurse said the test "doesn't rule out Celiac." But it doesn't really tell the lay person much else. She said I have "one of four parts" of the gene. She said I could either just go gluten free at this point because I know I feel better on the diet, or I could get an endoscopy to try and confirm a diagnosis that way. I'm leaning toward NOT getting the endoscopy and just going gluten-free. I really don't want to do another 60 days eating gluten for something that could be inconclusive; I'd rather wait for next generation testing to come out.

My question is, does anything on this result stand out as being particularly interesting to help solve whether I might have Celiac or not? I understand that I have one part of DQ2 - probably from my dad. I just need some help understanding what this means. Is there anyone on here with a similar result and were they later diagnosed as celiac via endoscopy? Thank you.

HLA Testing Results

HLA-DQA1*

DQA1*01:XX

DQA1*05:05

HLA-DQB1*

DQB1*03:XX

DQB1*05:XX

Comments: The allele DQA1*05:09 cannot be ruled out, but the allele DQA1*05:05 is at least >1,000/1 times more likely than the allele DQA1*05:09.

Interpretation

DQ2

(DQB1*02) is Negative

DQB1*02:01 or 02:02 is Not Present

DQA1*05:05 is Present

DQ8

(DQB1*03:02) is Negative

DQB1*03:02, DQA1*03 is Not Present

Approximately 25-40% of the general population in the US carries the HLA-DQ2 or HLA-DQ8 antigens. HLA-DQ2 and HLA-DQ8 antigens are present in the majority of patients with celiac disease. HLA-DQ2 heterodimers are present in 90-95% of patients with celiac disease and are encoded by the HLA-DQB1*02:01 or DQB1*02:02 and HLA-DQA1*05 alleles (2-8). It has also been reported that a very small number of patients with celiac disease may carry only one of these two alleles (DQb1*02, DQB1*02:02, DQA1*05, DQA1*05:01 or DQA1*05:05). Being homozygous for HLA-DQB1*02:01 may be associated with more severe disease. HLA-DQ8 heterodimers are present in 5-10 percent of patients with celiac disease. The DQ8 molecule is encoded by the HLA-DQB1*03:02 and HLA-DQA1*03 alleles (2-8).

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