Some genetic determinants of celiac disease, the role of HLA haplotyping in clinical settings and HLA-DQ haplotypes in a group of 306 pediatric patients

Česká verzia

Authors: M. Kubina; I. Čierna; D. Székyová; L. Kovács
Authors place of work: II. detská klinika LF UK a DFNsP Bratislava, Slovenská republika
Published in the journal: Gastroent Hepatol 2016; 70(6): 475-479
Category:
doi: https://doi.org/10.14735/amgh2016475

Summary

Celiac disease is a chronic immune-mediated small bowel enteropathy with autoimmune traits triggered by gluten ingestion that develops in genetically predisposed individuals. The prevalence of celiac disease is around 1%, although almost 40% of the general population has the major genetic predisposing factor and conditio sine qua non of celiac disease: the HLA-DQ2/DQ8 haplotype. Taking into account the exclusion criteria for HLA-DQ2/8 typing, 306 patients that were followed for celiac disease in the Gastroenterology Ambulance of the 2^nd Pediatric Clinic of Comenius University, Faculty of Medicine and Children’s Hospital Bratislava, were subjected to the scrutiny of this test. Fifty-four out of 306 children (17%) not carrying the pathognomonic allele were subjected to the gluten challenge test, which excluded the possibility of celiac disease in 50 of these patients. The diagnosis was changed to non-celiac gluten sensitivity in three patients based on their response to dietary gluten.

Key words:
celiac disease – immunogenetics – haplotypes – HLA-DQ2 antigen – HLA-DQ8 antigens

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial Board declares that the manuscript met the ICMJE „uniform requirements“ for biomedical papers.

Submitted:
21.10.2016

Accepted:
20.11.2016

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