Genetic testing

[LRFun]

Wondering if anyone can help me understand this test result from enterolab and my likelihood of having celiac. It was years ago, but I just remembered I had this testing done:

Gluten Sensitivity Gene Test
HLA-DQB1 Molecular analysis, Allele 1      0202   

HLA-DQB1 Molecular analysis, Allele 2      0501   

Serologic equivalent: HLA-DQ   2,1  (Subtype 2,5)

My question is if this is considered half DQ2?

The explanation they gave is below. However, I can’t seem to find anything indicating that HLA-DQB1*0501 predisposes me to celiac. I only saw that the A1*0501 predisposes to celiac.
 

Interpretation of HLA-DQ Testing:  Although you do not possess the main HLA-DQB1 genes predisposing to celiac disease (HLA-DQ2 or HLA-DQ8), HLA gene analysis reveals that you have two copies of a gene that predisposes to gluten sensitivity, in your case HLA-DQB1*0202 and HLA-DQB1*0501. While most individuals with celiac disease possess the HLA-DQ2*0201 subtype, the possibility of developing celiac disease with other DQ2 subtypes still exists. Having two copies of a gluten sensitive gene means that each of your parents and all of your children (if you have them) will possess at least one copy of the gene. Two copies also means there is an even stronger predisposition to gluten sensitivity than having one gene, and the resultant immunologic gluten sensitivity may be more severe.

Background: I have been gluten free for 11 years due to symptoms of celiac and DH, but am undiagnosed. The reason I’m looking for more information now is because my son has been having rashes that look similar to mine and I’m worried it could be DH. I ate gluten for a week last month and got a biopsy on one of the bumps. It was negative and she told me it could just be a bug bite. The person sounded like she knew what she was doing but when I questioned her on the results and the method of testing she dismissed me. She called me a week later saying she talked to the pathologist and he told her to correct way to test for DH, which was not what she had done! I am hesitant to go back to her and I live in a rural area without many other options. 

 

 

[trents]

Yes, a DH biopsy should be done between the bumps, not on them. The original dermatologist seems to acknowledge that she did it incorrectly the first time and knows better now so I wouldn't hesitate to use her again.

Sorry, I can't help you with the genetic testing question but the explanation given by the report seems pretty straight forward. When you consume significant amounts of gluten what symptoms do you get besides potential DH? Are the symptoms drastic enough that you would not be willing to endure two months of a gluten challenge in order to get celiac testing done?

Edited August 24, 2023 by trents

[Scott Adams]

I'm not very familiar with genetic markers associated with gluten sensitivity, but I do trust Dr. Kenneth Fine and Enterolab, so I would believe their interpretation. 

[knitty kitty]

Welcome, @LRFun,

I found this study....

HLA DQ Gene Dosage and Risk and Severity of Celiac Disease

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2175211/

 "Those with 2 copies of DQB1*02 would be much more likely to get celiac disease than those with a single copy, who in turn are much more likely to get it than someone without a copy." 

Dermatitis Herpetiformis is a definitive Celiac Disease diagnosis.  Go back now that she has learned how to do the biopsy properly.  It never hurts to help someone learn something.  It may help the next undiagnosed Celiac in future.  

Edited August 25, 2023 by knitty kitty
Typo correction