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人类白细胞抗原-G 基因 3'非翻译区单倍型与狼疮的关联研究。

Association Study of 3-untranslated region Haplotype of Human leukocyte antigen-G Gene with Lupus.

机构信息

Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran.

Kidney Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.

出版信息

Genet Test Mol Biomarkers. 2024 Sep;28(9):367-372. doi: 10.1089/gtmb.2024.0184. Epub 2024 Aug 12.

DOI:10.1089/gtmb.2024.0184
PMID:39250772
Abstract

Human leukocyte antigen-G (HLA-G) is a pivotal protein involved in immune regulation and tolerance, while systemic lupus erythematosus (SLE) is a multifaceted autoimmune condition influenced by genetic and environmental factors. Research indicates that variations and mutations in HLA-G may impact SLE development. This study aimed to explore the relationship between polymorphisms in the 3'-untranslated region (UTR) of the HLA-G gene and SLE. DNA from 100 SLE patients and 100 controls was analyzed using polymerase chain reaction to amplify the target sequence. Allele and genotype frequencies were determined, and haplotypes were assessed using Haploview v.4.2 software, with linkage disequilibrium calculated. Findings revealed that the +2960 Ins allele was significantly linked to SLE as a risk factor, with the Del allele showing a protective effect. In addition, the +3010C allele and +3187A allele were significantly associated with SLE at both allele and genotype levels. The +3142 GG homozygote was notably linked to SLE at the genotype level. Haplotype analysis identified UTR-2 haplotypes as risk factors for SLE, whereas the UTR-1 haplotype was protective, shedding light on genetic factors influencing SLE risk. This study underscores the importance of HLA-G gene 3'-UTR polymorphisms in SLE susceptibility, suggesting their potential as diagnostic or therapeutic targets.

摘要

人类白细胞抗原-G(HLA-G)是一种参与免疫调节和耐受的关键蛋白,而系统性红斑狼疮(SLE)是一种受遗传和环境因素影响的多方面自身免疫性疾病。研究表明,HLA-G 的变异和突变可能会影响 SLE 的发展。本研究旨在探讨 HLA-G 基因 3'-非翻译区(UTR)多态性与 SLE 之间的关系。使用聚合酶链反应(PCR)扩增靶序列,分析了 100 例 SLE 患者和 100 例对照的 DNA。使用 Haploview v.4.2 软件确定等位基因和基因型频率,并评估单倍型,计算连锁不平衡。研究结果表明,+2960Ins 等位基因与 SLE 作为危险因素显著相关,Del 等位基因表现出保护作用。此外,+3010C 等位基因和+3187A 等位基因在等位基因和基因型水平上均与 SLE 显著相关。+3142GG 纯合子在基因型水平上与 SLE 显著相关。单倍型分析确定 UTR-2 单倍型是 SLE 的危险因素,而 UTR-1 单倍型具有保护作用,这表明遗传因素影响 SLE 的风险。本研究强调了 HLA-G 基因 3'-UTR 多态性在 SLE 易感性中的重要性,提示其可能作为诊断或治疗靶点。

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