HLA DQ2/DQ8 haplotypes and the clinical presentation of patients with celiac disease.

Celiac disease (CD) is a chronic condition triggered by gluten consumption in genetically predisposed individuals, with approximately 95% of CD patients carrying the HLA-DQ2 or DQ8 risk haplotypes. In addition to genetic susceptibility, recent evidence suggests that these haplotypes may influence the clinical presentation and severity of CD. However, evidence on this topic remains scarce, and the impact of HLA-DQ2 and DQ8 haplotypes on CD is not yet fully established. The present study investigated the relationship between HLA-DQ2 and DQ8 haplotypes and gastrointestinal symptoms in CD patients from Southern Brazil, treated in a private clinical setting. All patients were diagnosed with CD based on positive serological tests (anti-endomysial IgA) and confirmed by histological findings in duodenal biopsies (Marsh classification). The presence of haplotypes was determined by DNA typing using polymerase chain reaction (PCR), and clinical data were collected at the initial consultation, prior to the initiation of a gluten-free diet.