The Effect of HLA-DQ Locus in Celiac Disease Risk: A Study in the Adult Turkish Patients

Year 2025, Volume: 15 Issue: 3, 225 - 231, 31.12.2025

Dinara Bokenbay , Çiğdem Kekik Çınar , Sonay Temurhan , Melek Büyük , Asli Cifcibasi Ormeci , Fatma Savran Oğuz

https://doi.org/10.26650/experimed.1636660

Abstract

Objective: Celiac disease is an autoimmune disorder characterized by intestinal damage and autoanti body production caused by gluten ingestion in genetically predisposed individuals. The aim of this study was to investigate the role of the HLA DQ locus on Turkish celiac patients.

Materials and Methods: This study included 108 celiac patients and 100 healthy controls. Polymerase chain reaction sequencespecific oligonucleotide (PCRSSO) was used to genotype HLA DQB1 and DQA1 alleles, and the relative risk of different genotypes was evaluated for disease.

Results: The significantly increased allele frequencies in patients were DQA1*03:01 and DQB1*03:02. In typical celiac patients, DQA1*05:01 and DQB1*02:01 alleles were significantly higher, whereas DQA1*05:05 was found to be lower. No significant difference in the frequency of DQ2 heterozygous genotypes was observed. The DQ2 homozygous genotype was more frequent in patients, though not statistically significant. The DQ8 heterozygous genotype was significantly higher in patients. The DQB1*05:01 allele was positively associated with weight loss and DQB1*03:03 with reproductive system symptoms

Conclusions: The results of this study were about the effect of celiac disease subgroups and specific HLA alleles. These insights may lead to earlier diagnosis and the development of personalized treatments.

Keywords

Celiac disease , Human Leucocyte Antigen , Polymerase chain reaction sequence-specific oligonucleotide , HLA-DQA1/DQB1

Ethical Statement

The Ethics Committee approval for our study was received from the Istanbul University Istanbul Faculty of Medicine Clinical Research Ethics Committee. (2024/516)

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