How to interpret my genetic test results

[Zuma888]

Hello,

These are my genetic test results:

Test                                                          Result

DQA1:                                                      DQA1*02
DQA1:                                                      DQA1*03
DQB1:                                                      DQB1*0302
DQB1:                                                      DQB1*
HLA-DQ2 (DQA1*05/DQB1*02) :             Negative
HLA-DQ8 (DQA1*03/DQB1*0302):          Positive

 

Is this saying I inherit DQA1*03 from one of my parents and DQB1*0302 from the other? And is one of these enough to say I have HLA-DQ8 or do I need both?

Thank you.

[Scott Adams]

Your interpretation is on the right track! Based on your results, you do have one of the genetic markers associated with celiac risk—HLA-DQ8—which means you inherited DQA1*03 from one parent and DQB1*0302 from the other. These two alleles together form the HLA-DQ8 haplotype, so having both confirms the DQ8 positivity (not just one alone).

Since you’re DQ2-negative but DQ8-positive, this still means you have a genetic predisposition to celiac (though not everyone with DQ8 develops it). If you’re experiencing symptoms, the next step would be discussing antibody testing (like tTG-IgA) or an endoscopy with your doctor, but I think you decided not to do the gluten challenge and just go gluten-free.

[Zuma888]

9 minutes ago, Scott Adams said:

Your interpretation is on the right track! Based on your results, you do have one of the genetic markers associated with celiac risk—HLA-DQ8—which means you inherited DQA1*03 from one parent and DQB1*0302 from the other. These two alleles together form the HLA-DQ8 haplotype, so having both confirms the DQ8 positivity (not just one alone).

Since you’re DQ2-negative but DQ8-positive, this still means you have a genetic predisposition to celiac (though not everyone with DQ8 develops it). If you’re experiencing symptoms, the next step would be discussing antibody testing (like tTG-IgA) or an endoscopy with your doctor, but I think you decided not to do the gluten challenge and just go gluten-free.

Thank you so much for your response!

Does this mean that each of my parents on their own may not have HLA-DQ8 but combined together gave me HLA-DQ8?

[Scott Adams]

No, it means that you inherited one DQ8-positive gene from one of your parents. The people who did your genetic test should be able to tell you which parent has the gene, but that parent should also get a celiac disease blood test done annually, as should any of your siblings and/or children.