HLA-B gene methylation and expression in Behçet's syndrome: a potential role of epigenetics in the pathogenesis.

Autor:	Özkılınç Önen M; Department of Molecular Biology-Genetics and Biotechnology, Graduate School of Science, Engineering and Technology, Istanbul Technical University, Turkey., Everest E; Department of Molecular Biology-Genetics and Biotechnology, Graduate School of Science, Engineering and Technology, Istanbul Technical University, Turkey., Demirci T; Department of Molecular Biology-Genetics and Biotechnology, Graduate School of Science, Engineering and Technology, Istanbul Technical University, Turkey., Köprülü Şen P; Department of Molecular Biology-Genetics and Biotechnology, Graduate School of Science, Engineering and Technology, Istanbul Technical University, Turkey., Kızıltepe Kısakesen E; Department of Molecular Biology-Genetics and Biotechnology, Graduate School of Science, Engineering and Technology, Istanbul Technical University, Turkey., Özgüler Y; Division of Rheumatology, Department of Internal Medicine, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Esatoğlu SN; Division of Rheumatology, Department of Internal Medicine, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Seyahi E; Division of Rheumatology, Department of Internal Medicine, Cerrahpaşa Medical Faculty, Istanbul University-Cerrahpaşa, Istanbul, Turkey., Tahir Turanlı E; Department of Molecular Biology and Genetics, Faculty of Engineering and Natural Sciences, Acıbadem University, Istanbul, and Graduate School of Natural and Applied Sciences, Molecular Biology and Genetics Program, Acibadem University Istanbul, Turkey. eda.turanli@acibadem.edu.tr.
Jazyk:	angličtina
Zdroj:	Clinical and experimental rheumatology [Clin Exp Rheumatol] 2024 Oct; Vol. 42 (10), pp. 2014-2020. Date of Electronic Publication: 2024 Jan 24.
DOI:	10.55563/clinexprheumatol/1sf43v
Abstrakt:	Objectives: The HLA-B51 locus has the strongest association with Behçet's syndrome (BS). The presence of a CpG island in the HLA-B gene led us to examine the role of epigenetic regulation in BS. Methods: HLA-B51 genotyping was performed via sequence-specific PCR in 15 index familial BS cases, 17 affected relatives, 26 unaffected relatives, 46 sporadic BS cases, and 41 healthy controls. HLA-B methylation level was determined using the Zymo OneStep qMethyl kit, and HLA-B51 mRNA level was assessed by quantitative real-time PCR in 14 index familial BS cases, 15 affected relatives, 15 unaffected relatives, 11 sporadic BS cases, and 10 healthy controls. Results: HLA-B51 carrier ratio was 13/15 in index familial cases, 13/17 in affected relatives, 22/26 in unaffected relatives, 8/25 in healthy controls, and 35/47 in sporadic BS cases. HLA-B51 expression level in HLA-B51+ BS cases was 2.2-fold higher than in their unaffected relatives (p=0.0149) and 1.3-fold higher than in healthy controls (p=0.0188), while sporadic BS cases had a 2.7-fold higher level than healthy controls (p=0.0487). HLA-B promoter methylation was significantly lower in HLA-B51+ familial BS cases than in unaffected relatives (0.4-fold, p=0.01), affected relatives (0.36-fold, p=0.0219), and healthy controls (0.34-fold, p=0.0371) and slightly lower in HLA-B51+ sporadic BS cases than in healthy controls (0.71-fold, p=0.2347). There was an inverse correlation between HLA-B promoter methylation and HLA-B51 expression in HLA-B51+ sporadic BS cases (p=0.0164). Conclusions: This study indicates epigenetic involvement associated with the HLA-B51 locus in BS, both in familial and sporadic cases. Further studies with larger sample sizes are needed to confirm our results.
Databáze:	MEDLINE
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