Celiac disease — genetic markers?

• A. HLA-B8 and DRw3
• B. HLA-B27
• C. HLA-DR4
• D. HLA-DQ2

Answer: (A)

Celiac disease has a strong genetic predisposition tied to specific HLA class II haplotypes. The most important risk haplotype is DR3-DQ2, which is carried on the HLA-B8 and DRw3 region. When you see HLA-B8 together with DRw3, that pair represents the DR3-DQ2 haplotype, the classic genetic background most commonly associated with celiac disease. This combination effectively flags the major genetic risk factor clinicians look for.

Why this pair stands out: HLA-B27 and HLA-DR4 point to other conditions (such as spondyloarthritis and rheumatoid arthritis), not celiac. HLA-DQ2 is indeed a key component of the risk, but identifying the DR3-DQ2-haplotype via HLA-B8 and DRw3 captures the well-established genetic background linked to celiac disease. Remember, having these markers indicates predisposition, not a guaranteed diagnosis.