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

IF 2.6 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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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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

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.