The Diagnostic Value of HLA DQ2 and HLA DQ8 Alleles in Children with Celiac Disease

Abstract

Background & Objectives: Celiac disease is an autoimmune disorder with genetic background. Quantitative information about the frequency of HLA gene associated with celiac disease in children is available in the North-West of Iran. The aim of this study was to determine clinical utility of HLA-DQ2 and HLA-DQ8 alleles in children with celiac disease. Materials and Methods: HLA-DQ2 and -DQ8 typing was carried out in 56 patients with gastrointestinal symptoms such as abdominal pain, growth failure, diarrhea , vomiting and constipation in those who were admitted to gastroenterology and endocrinology outpatient clinics of Children’s Hospital. Twenty six children diagnosed celiac disease on the basis of clinical symptoms, serological investigations and according to European Society of Pediatric Gastroenterology and Nutrition (ESPGHAN) criteria were compared at the end results were compared with 30 normal persons without celiac disease. Results: HLA-DQ2 was identified in 92.3% patients, and 20% control group (P0.0001) and HLA-DQ8 was identified in 11.53% patients and 6.66% of control group (P=0.59). HLA-DQ8 occurred more often in HLA-DQ2-negative patients compared to HLA-DQ2-positive patients. Sensitivity and specificity of HLADQ2 in diagnosis of celiac disease were 92% and 80% respectively. Sensitivity and specificity of HLADQ8 were 11% and 97% respectively. Conclusions: Presence of celiac disease in pediatric population of the North-West of Iran had positive correlation of HLADQ2, but didn't with HLADQ8. The evaluation of HLA-DQ2/DQ8 haplotype confirms the genetic predisposition to Celiac Disease in subjects with the disease diagnosed previously on the basis of clinical symptoms, serological tests or intestinal biopsy.

Keywords: Celiac Disease, HLA-DQ2, HLA-DQ8, Pediatric, FTT