HLADQ۲ and HLADQ۸ Alleles Are Associated with Celiac Disease in Children

Background: Celiac disease is the permanent intolerance to dietary gluten, the major protein component of wheat. The role of human leukocyte antigen (HLA) DQ۲ heterodimer (DQA۱*۰۵۰۱-DQB۱*۰۲۰۱) in presenting gluten peptides to effectors T cells in celiac disease (CD) has been well documented. Epidemiological studies of the disease in Iran are not available. This study was aimed to investigate the frequency of HLADQ۲ and HLADQ۸ in children with celiac disease in Mashhad city. Methods: This case-control study was conducted on ۲۵ celiac patients and ۲۵ matched healthy controls for HLA typing of DQ۲/DQ۸. CD diagnosis was reached in ۲۵ subjects, according to the revised criteria of the European Society for Pediatric Gastroenterology Hepatology and Nutrition (ESPGHAN) and North American Society for Pediatric Gastroenterology, Hepatology and Nutrition criteria (NASPGHAN). Sensitivity, specificity, and negative and positive predictive values were calculated. Results: Mean age was ۱۳۴.۰۶±۳۰.۴۸ months in case and control groups, with no statistical difference between the two groups. ۴۸% of cases and controls were male, and ۵۲ % were female. HLA-DQ۲/۸ was positive with ۸۰% (CI ۹۵%:۶۴-۹۵), sensitivity was ۸۰% (CI ۹۵%:۵۸-۹۲), specificity ۴۸% (CI ۹۵%:۲۸-۶۸), NPV ۷۰.۵۸% (CI ۹۵%:۴۴-۸۸), PPV ۶۱(CI ۹۵%:۴۲.۲-۷۶.۵) and accuracy was ۶۴%. Conclusion: A positive association was found between HLA DQ۲/۸ and Iranian celiac disease. As negative and predictive values were high, HLA typing may be considered a beneficial test for diagnosis confirmation.

Keywords:

Celiac disease , HLA-DQ۲ / ۸ , Gluten , Wheat