Association of Zinc Finger-76 rs10947540 polymorphism and its gene expression in Egyptian patients with systemic lupus erythematosus

IF 2.4 3区 生物学 Q2 GENETICS & HEREDITY Gene Pub Date : 2025-02-20 DOI:10.1016/j.gene.2025.149343
Ismail M. Ahmed , Hanan Elimam , Maha Emad Ibrahim , Sarah Shabayek , Dina M. Abo-Elmatty , Noha M. Mesbah , Asmaa R. Abdel-Hamed
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Abstract

Systemic lupus erythematosus (SLE) is an autoimmune disorder characterized by the involvement of multiple organs and dysregulation of the immune system. Zinc finger (ZNF) proteins act as DNA-binding transcription factors, thereby regulating gene expression. Polymorphisms, specifically single-nucleotide polymorphisms (SNPs), within ZNF-coding genes, have been implicated in susceptibility to autoimmune diseases, including the ZNF-76 gene in SLE. This investigation aimed to elucidate the association between ZNF-76 gene expression, protein levels, and rs10947540 SNP in a cohort of Egyptian SLE patients. One hundred healthy controls and one hundred SLE patients were recruited. Quantitative real-time PCR was employed to identify ZNF-76 (C/T) rs10947540 genotypes and quantify serum ZNF-76 mRNA expression. Additionally, serum ZNF-76 protein levels were measured using ELISA. Our results revealed downregulation of ZNF-76 mRNA expression in approximately 75% of SLE patients, with a significant decrease (0.23-fold) in median expression compared to controls. Furthermore, SLE patients exhibited a higher prevalence of high-risk TT genotype and demonstrably lower serum ZNF-76 protein levels. In conclusion, this study suggests a strong association between decreased serum ZNF-76 mRNA expression and increased susceptibility to SLE in the studied Egyptian population. Specific SNP in the ZNF-76 gene may be potential markers for inherited predisposition to SLE in this population.
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锌指-76 rs10947540多态性与埃及系统性红斑狼疮患者基因表达的关系
系统性红斑狼疮(SLE)是一种自身免疫性疾病,其特点是多器官受累和免疫系统失调。锌指(ZNF)蛋白是一种 DNA 结合转录因子,可调节基因表达。ZNF编码基因中的多态性,特别是单核苷酸多态性(SNPs),与自身免疫性疾病的易感性有关,包括系统性红斑狼疮中的ZNF-76基因。这项研究旨在阐明埃及系统性红斑狼疮患者队列中 ZNF-76 基因表达、蛋白水平与 rs10947540 SNP 之间的关联。研究人员招募了 100 名健康对照者和 100 名系统性红斑狼疮患者。研究人员采用定量实时 PCR 技术鉴定了 ZNF-76 (C/T) rs10947540 基因型,并对血清中 ZNF-76 mRNA 的表达进行了定量分析。此外,还使用酶联免疫吸附法测定了血清 ZNF-76 蛋白水平。我们的研究结果显示,约 75% 的系统性红斑狼疮患者 ZNF-76 mRNA 表达下调,与对照组相比,中位表达量显著下降(0.23 倍)。此外,系统性红斑狼疮患者的高危 TT 基因型发生率较高,血清 ZNF-76 蛋白水平明显较低。总之,这项研究表明,在所研究的埃及人群中,血清 ZNF-76 mRNA 表达降低与系统性红斑狼疮易感性增加之间存在密切联系。ZNF-76基因中的特定SNP可能是该人群遗传性系统性红斑狼疮易感性的潜在标志物。
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来源期刊
Gene
Gene 生物-遗传学
CiteScore
6.10
自引率
2.90%
发文量
718
审稿时长
42 days
期刊介绍: Gene publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses.
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