Prevalence of HLA-DQ*02 and HLA-DQ*08 in Patients with Celiac Disease in Eastern Anatolia and the Diagnostic Role of HLA-DQ*02 and HLA-DQ*08 Genotyping

Abstract

Introducton: Celiac disease (CD) is diagnosed with serological tests and small bowel biopsy. There is a strong link between CD and human leukocyte antigens (HLA). In this study, we aimed to determine the role of HLA alleles DQ*02 and DQ*08 in the diagnosis of pediatric CD patients and to determine the prevalence of these alleles in the population. Materials and Methods: The study included 72 school-aged celiac patients diagnosed according to serology and small bowel biopsy results, and a control group consisting of 70 unrelated individuals with no systemic disease. HLA-DQ*02 and HLA-DQ*08 typing was done using the sequence-specific primer (PCR-SSP) method. Results: The mean age of the CD patients included in the study was 10.06±2.10 years. HLA-DQ*02 frequency was significantly higher in the CD group (67%) compared to the control group (17%) (p<0.001). HLA-DQ*08 frequencies did not differ significantly between the patient and control groups (26% and 24%, respectively; p>0.05). Conclusions: Genetic risk profiles in CD are helpful for predicting susceptibility to disease and disease progression. The results of our study showed that the prevalence of HLA-DQ*02 was higher among CD patients than healthy individuals, and it was higher than the prevalence of HLA-DQ*08. Our study further supports the link between HLADQ*02 and increased risk of disease.