HLA-DQA1 and HLA-DQB1 genetic markers and clinical presentation in celiac disease

Background: Patients with celiac disease are diagnosed at any age and can exhibit a wide range of clinical manifestations. The reasons for this are unclear. The aim of this study was to investigate a possible correlation between the HLA-DQA 1 and HLA-DQB 1 genetic markers and clinical features of celiac disease. Methods: A total of 133 patients with celiac disease were tested for the HLA-DQA1 and HLA-DQB1 genes. Their corresponding allele and haplotype frequency distributions were estimated from the phenotypes found. The results were correlated with data from the clinical records. Results: The DQ2 molecule was found in 93% of the patients, and DQ2 or DQ8 was found in 98%. The DQA1*0201*DQB1*0202 haplotype showed strong linkage disequilibrium. DQ2 homozygosis was significantly associated with female sex, earlier age at diagnosis, and shorter delay between onset of symptoms and diagnosis. Double-dose DQB1*02 (01-02) allele was more frequent in patients with the classic presentation of the disease. Conclusions: The genetic markers investigated may prove useful for diagnosing and managing celiac disease. With some clinical variables, correlations not previously described were found. These correlations have a moderate strength and, therefore, must be confirmed by other studies.