HLA DQ2 and HLA DQ8 genetic evaluation in children with Type 1 Diabetes Mellitus and Celiac Disease

Abstract

Objective: Celiac disease (CD) is an autoimmune disease, and other autoimmune diseases co-existence is very high, like type 1 diabetes mellitus (T1DM). Our study aimed to determine the genetic structure of HLADQ2 and HLADQ8 in pediatric patients with T1DM and CD. Materials and Methods: Our study was conducted retrospectively in patients aged 1-18 years with CD and T1DM, who were followed up in the Pediatric Endocrinology Outpatient Clinic in Adana, Turkey. Results: A total of 876 patient records with a T1DM diagnosis were reviewed, and the genetic testing of 41 patients with CD and T1DM was evaluated. In 27 of these 41 patients, genetic analysis was performed by the same method and could be evaluated. Of the cases, 12 (44.4%) were female and 15 (55.6%) were male. The mean follow-up duration for the patients was 3.12 ± 1.75 years. The current age of the patients was 12.7± 3.71 years. While 7 (25.9 %) patients were symptomatic, 20 (74.1%) patients were asymptomatic when diagnosed with CD. The highest rates of HLA DQ2 and HLA DQ8 were found in patients with T1DM and CD. Conclusion: In this study, we investigated, for the first time in our country, the HLA characteristics and clinical findings of a group of pediatric patients with both type 1 diabetes mellitus (T1DM) and celiac disease (CD). The rate of patients with HLA-DQA1* 05-DQB1 * 02-DQB1 *03:02 co-existence (HLA DQ2 and DQ8 co-positivity) was found to be as high as 40.7%, and this carrier was thought to be the riskiest group for T1DM and CD co-existence.