Genetic Testing

[Ngueyn1980]

Does anyone have any insight on these genetic markers.

HLA DQ2 - (one of the main markers) --- Positive

HLA DQ8 (the other main marker) ---- negative

HLA Variants Detected: What do the below mean?

HLA DQA1*----- 05

HLA DQA1* ---- 06

HLA DQB1*-----0201

HLA DQB1*-----0301

 

 

[CatherineWang]

The presence of HLA-DQ2 is a significant risk factor for celiac disease, while HLA-DQ8 may also play a role, albeit to a lesser extent. The specific alleles detected can further refine the assessment of celiac disease risk, as certain combinations of alleles are more strongly associated with the condition. However, it's important to remember that genetic markers are just one piece of the puzzle, and additional factors, such as environmental triggers, also contribute to disease development. If you have concerns about celiac disease or other autoimmune conditions, it's best to consult with a healthcare provider or a genetic counselor for personalized guidance and interpretation of your results.

[Ngueyn1980]

Thank you. His other tests also indicate Celiac disease. I just didn’t know what role the other genetic variants played in the scenario.

on 11/10/23 his TTG was 126.8 (>15.0 for positive) on 2/28/24 TTG was 50.8 (>15.0 for positive

both blood draw dates his endomysial antibody was positive. 
 

I know it’s safe to say he has celiac disease.  We follow up with GI on 3/14 -

he had an endoscopy on 12/12/23 that was negative for celiac but had inflammation. 
 

he just turned 3 on 3/1. I am not sure if GI with diagnose him off bloodwork alone. I guess we will find out! 

[Scott Adams]

The number of genes associated with celiac disease is more than two, but there are two main genes that are commonly tested for celiac disease susceptibility. These genes are HLA-DQ2 and HLA-DQ8.

• HLA-DQ2: The majority of individuals with celiac disease (about 90-95%) carry the HLA-DQ2 gene.
• HLA-DQ8: Around 5-10% of individuals with celiac disease have the HLA-DQ8 gene.
• Other Genes: While HLA-DQ2 and HLA-DQ8 are the primary genes associated with celiac disease, having these genes doesn't guarantee that someone will develop celiac disease. Additionally, a small percentage of individuals with celiac disease don't have either of these genes. This suggests that other genetic factors may also play a role, though they are less common.

This article has more information about the genes associated with celiac disease: