HLA-DQ Gene: Human Leukocyte Antigen DQ

The HLA-DQ genes encode proteins that help the immune system distinguish between the body's own cells and foreign invaders. Specific HLA-DQ variants are strongly associated with celiac disease and gluten sensitivity.

What Does the HLA-DQ Gene Do?

HLA-DQ proteins present fragments of proteins (antigens) to immune cells. In celiac disease, HLA-DQ2 or HLA-DQ8 proteins present gluten fragments in a way that triggers an autoimmune response against the small intestine.

Key HLA-DQ Variants

HLA-DQ2.5 (DQA1*05/DQB1*02): Present in approximately 90-95% of celiac patients. Highest risk variant for celiac disease.

HLA-DQ8 (DQA1*03/DQB1*0302): Found in most remaining celiac patients who don't have DQ2.5.

HLA-DQ2.2 (DQA1*02/DQB1*02): Lower risk variant but still associated with celiac susceptibility.

Health Impacts

• Celiac disease susceptibility
• Non-celiac gluten sensitivity
• Type 1 diabetes association
• Other autoimmune conditions
• Immune system regulation

Evidence-Based Recommendations

• Negative for DQ2/DQ8: Celiac disease extremely unlikely
• Positive for DQ2/DQ8: Does NOT mean you have celiac (only susceptibility)
• If symptomatic: Get tested for celiac before going gluten-free
• Genetic test cannot diagnose celiac (need antibodies + biopsy)
• First-degree relatives of celiac patients should consider testing

Get Your HLA-DQ Analysis

Discover your personal HLA-DQ status and receive tailored recommendations based on your unique genetic profile.

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