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Anyone understand genetic testing


JD-FLA

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JD-FLA Contributor

Although diagnosed with celiac and dermatitis herpetiformis, I was curious about the celiac genetics and had that testing done on my own. Unfortunately, the lab does not explain the results and any doctor I have asked said I would need to see someone specializing in genetics. I was hoping someone out there might help me understand. Here is what came back and although I understand the HLA DQ2 and HLA DQ8, I wasn't sure what the variants mean and why they repeat twice. Someone said it was a double marker meaning both of my parents gave me copies. I also read having this combination makes my celiac potentially much worse.

HLA DQ2 - Positive | HLA DQ8 - Negative

HLA Variants Detected:

HLA DQA1*05 and again HLA DQA1*05

HLA DQB1*0201 and again HLA DQB1*0201


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Scott Adams Grand Master

Your genetic test results confirm that you carry the highest-risk markers for celiac disease, specifically the HLA-DQ2 haplotype (while being negative for HLA-DQ8). The fact that both HLA-DQA1*05 and HLA-DQB1*0201 appear twice means you inherited identical copies from each parent, making you homozygous for these genes. This double dose of the DQ2.5 haplotype is significant because it indicates an even stronger genetic predisposition to celiac disease compared to those who only inherit one copy. Research suggests that people with this homozygous pattern may have a higher likelihood of developing the disease, potentially more severe immune responses to gluten, and a stronger association with dermatitis herpetiformis (which aligns with your diagnosis). While this genetic profile doesn’t guarantee worse symptoms, it does reinforce why strict gluten avoidance is critical for you. Since you’re already diagnosed, the main takeaway is that your results explain your biological susceptibility—no further genetic counseling is needed unless you have family planning questions. The repeating variants simply mean both parents passed you the same high-risk alleles, which is why your body reacts so strongly to gluten. Ultimately, your diagnosis and management remain the same, but this insight helps underscore the importance of lifelong dietary diligence.

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