The Genotype-phenotype Correlation of HLA-DQ2 and HLA-DQ8 Haplotypes in Pediatric Celiac Disease: A Single Center Experience

Objective: Celiac disease (CD) is a multifactorial disease caused by the interaction of HLA-DQA1 and HLA-DQB1 alleles, which are known to be associated with disease susceptibility in addition to gliadin and other environmental factors. The aim of this study was to determine the incidence of genetic alleles in pediatric CD at our center. Materials and Methods: This study was designed as a retrospective evaluation of the clinical and genetic findings of patients followed up with a diagnosis of CD in the Pediatric Gastroenterology Outpatient Clinic. According to the study; the data of age, compliance with the diet, family history of disease, genetic testing outcomes, and Marsh classification were compared. Results: A total of 138 CD patients (94 female, 44 male) were included in our study. The most frequent genetic allele was HLA-DQ2 (69.6%). There was no significant relationship between genetic results and gender, age at diagnosis, body mass index, monthly growth rate, and compliance with diet. In addition, no relationship was found between the genetic structure of the patients and their positive family history with CD. In our study, type 1 diabetes mellitus (DM) was the most frequent disease accompanying CD. Remarkably, higher concomitant positivity of DQ2(+) and DQ8(+) was found in patients presenting with CD and type 1 DM coexistence. Conclusion: Genetic tests are used for the exclusion of CD disease, rather than diagnosis of. The importance of genetic testing to reduce interventional procedures for CD must be acknowledged.