Akademik Veri Yönetim Sistemi
Balkan EPT Meeting 2024, İstanbul, Türkiye, 15 Kasım 2024 - 16 Ocak 2026, ss.22, (Özet Bildiri)
Objectives: Celiac disease is a chronic autoimmune enteropathy triggered by
the ingestion of gluten, leading to small intestine damage and autoantibody
formation. The disease is linked to human leukocyte antigens (HLA)-DQ genes
that encode the HLA-DQ2 and DQ8 proteins.
Materials and Methods: In this study, 108 adult patients diagnosed with celiac
disease and 100 healthy controls included. HLA-DQA1 and -DQB1 alleles were
typing with SSO-PCR technique. Relative risks for different alleles were also
evaluated.
Results: The allele frequencies between patients and healthy controls,
DQA1*03:01 (p=0.011), DQB1*03:02 (p=0.017) are the alleles showing
statistically increased in patients. In typical celiac patients DQA1*05:01 and
DQB1*02:01 alleles were significantly higher and DQA1*05:05 allele was
lower (respectively, p=0.003, p=0.006, p=0.027). There was no statistically
significant difference in DQ2 heterozygous genotype frequency between
patients and controls. The DQ2 homozygous genotype has a higher frequency
in celiac patients, but this increase is not statistically significant. The DQ8
heterozygous genotype was found at a significantly higher frequency in celiac
patients than in healthy controls (p=0.018). Gastrointestinal system related
findings the DQB1*0501 allele showed a positive association with weight loss
(p=0.049). The DQB1*0303 allele was strongly associated with reproductive
system symptoms (p=0.041).
Discussion: HLADQ2, HLADQ2.5 and DQ8 genotypes play important roles in
determining the genetic susceptibility to celiac disease. The DQ2 heterozygous
genotype does not play a significant role in predisposing and DQ8 homozygous
carriers may be predisposed to celiac disease. These genetic findings may
help to diagnose celiac disease earlier and more accurately and to develop
personalized treatment approaches.
Keywords: Celiac disease, human leucocyte antigen, polymerase chain
reaction sequence-specific oligonucleotide, HLA-DQA1/DQB1