Methylation profile of CD247 and FOXP3 genes and frequency of certain HLA-DQ haplotypes in Celiac disease

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dc.contributor.authorYildirim, Malik Ejder
dc.contributor.authorAtaseven, Hilmi
dc.contributor.authorKurtulgan, Hande Kucuk
dc.contributor.authorTastemur, Seyma
dc.contributor.authorSirin, Ahmet
dc.date.accessioned2025-05-04T16:47:14Z
dc.date.available2025-05-04T16:47:14Z
dc.date.issued2025
dc.departmentSivas Cumhuriyet Üniversitesi
dc.description.abstractBackground: Celiac disease is an autoimmune disorder that affects the small intestine in people with gluten intolerance. HLA-DQ2 and DQ8 have been associated with Celiac Disease. CD247 is a subunit of the T cell receptor complex and Forkhead box P3 (FOXP3) is a transcription factor involved in the regulation of the immune response. Expression levels of these two markers in various diseases, including autoimmune disorders, are controversial. In this context, we aimed to shed light on the etiopathogenesis of Celiac disease by determining the methylation profile of CD247 and FOXP3 genes, and to calculate the frequency of HLA-DQ haplotypes in this disease. Methods: Methylated and unmethylated copy numbers of the CD247 and FOXP3 genes in samples were calculated using the methylation-specific qPCR method. The records regarding HLA-DQ2 and DQ8 genotypes previously detected from our patients by Real Time PCR and tissue transglutaminase IgA (TTG-IgA) by ELISA, were analyzed. Results: CD247 methylation rate in our patients was significantly lower than in controls. According to the Marsh classification, the methylation level in Marsh type 2-3 patients was statistically lower than in type 1. On the contrary, FOXP3 had a significantly higher methylation rate in the patient group compared to healthy controls, and this gene was also found to be more methylated in Marsh type 2-3 patients than in Marsh type 1. In the patient group, HLA-DQ2 positivity was 82.5% and HLA-DQ8 positivity was 37.5%. Conclusion: The data suggest that CD247 expression is upregulated, whereas FOXP3 expression is downregulated in Celiac disease. Among HLA haplotypes, HLA-DQ2 heterodimer came to the forefront with its frequency in terms of celiac predisposition.
dc.description.sponsorshipSivas Cumhuriyet University Scientific Research Projects Coordination Unit
dc.description.sponsorshipThis research was supported by Sivas Cumhuriyet University Scientific Research Projects Coordination Unit.
dc.identifier.doi10.1016/j.clinre.2025.102562
dc.identifier.issn2210-7401
dc.identifier.issn2210-741X
dc.identifier.issue4
dc.identifier.pmid40010434
dc.identifier.scopus2-s2.0-85219031163
dc.identifier.scopusqualityQ2
dc.identifier.urihttps://doi.org/10.1016/j.clinre.2025.102562
dc.identifier.urihttps://hdl.handle.net/20.500.12418/35545
dc.identifier.volume49
dc.identifier.wosWOS:001439461600001
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherElsevier Masson, Corp Off
dc.relation.ispartofClinics and Research in Hepatology and Gastroenterology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.snmzKA_WOS_20250504
dc.subjectCD247
dc.subjectFOXP3
dc.subjectGene
dc.subjectMethylation
dc.subjectHLA haplotypes
dc.titleMethylation profile of CD247 and FOXP3 genes and frequency of certain HLA-DQ haplotypes in Celiac disease
dc.typeArticle

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