埃及系统性红斑狼疮患者 ZNF76 rs10947540 和 SCUBE3 rs1888822 单核苷酸多态性的生化研究。

Q2 Health Professions Journal of immunoassay & immunochemistry Pub Date : 2024-09-02 Epub Date: 2024-07-09 DOI:10.1080/15321819.2024.2371590
Mohamed Farag Ali Assar, Eman Masoud Abd El Gayed, Amal Salah Abd El-Hamid Ewis, Ahmed B Zaid, Eman Abd Allah Mahmoud Fouda
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引用次数: 0

摘要

系统性红斑狼疮(SLE)是一种常见的自身免疫性疾病,以细胞凋亡碎片的形成和针对细胞核成分的自身抗体的存在为特征。目前,系统性红斑狼疮的真正病因还不确定。遗传变量已被证实在系统性红斑狼疮的发病倾向中起着重要作用。本研究旨在调查(ZNF76)rs(10947540)和(SCUBE)rs(1888822)基因多态性对系统性红斑狼疮患者的影响。一项病例对照研究于 2022 年 6 月 1 日至 2023 年 6 月 1 日在埃及梅努菲亚大学医学院内科学系医学生物化学与分子生物学和风湿病学组进行,为期 1 年。60名患者为女性(75%),20名患者为男性(25%)。他们的年龄从 19 岁到 53 岁不等。病程从 7 个月到 20 年不等。研究结果表明,ZNF76 rs10947540 基因的 TC 基因型会使患系统性红斑狼疮的风险增加 2.274 倍,显性 TC + CC 会使风险增加 2.472 倍,C 等位基因会使风险增加 2.115 倍。此外,研究结果表明,SCUBE3 rs1888822 基因的 TT 基因型会使患系统性红斑狼疮的风险增加 3.702 倍,显性 GT + TT 会使患系统性红斑狼疮的风险增加 2.304 倍,T 等位基因会使患系统性红斑狼疮的风险增加 2.089 倍,而 GT 基因型会使患系统性红斑狼疮的风险增加 1.918 倍。研究显示,这些多态性的基因型与系统性红斑狼疮患者的某些临床参数之间存在明显的关联。这些发现凸显了遗传因素对系统性红斑狼疮易感性及其临床表现的潜在影响,为今后的研究和治疗这种复杂的自身免疫性疾病的潜在个性化方法提供了宝贵的见解。
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Biochemical study of ZNF76 rs10947540 and SCUBE3 rs1888822 single nucleotide polymorphisms in the Egyptian patients with systemic lupus Erythematosus.

Systemic lupus erythematosus (SLE) is a common autoimmune disease marked by the formation of apoptotic debris and the presence of autoantibodies that target nuclear components. At this moment, the actual cause of SLE is uncertain. Genetic variables have been well proven to have a significant role in the propensity of SLE. This study aimed to investigate the effect of (ZNF76) rs (10947540) and (SCUBE) rs (1888822) gene polymorphism in patients with systemic lupus erythematosus. A case control study has been carried out at Medical Biochemistry & Molecular biology and Rheumatology unit of Internal Medicine Departments, Faculty of Medicine, Menoufia University, Egypt, for 1-year duration between 1 June 2022 and 1 June 2023. Sixty patients were females (75%) and twenty patients were males (25%). Their ages ranged from 19 to 53 years. Their disease durations ranged from 7 months to 20 years. The findings indicated that the TC genotype of the ZNF76 rs10947540 gene increases the risk of SLE by 2.274-fold, while the dominant TC + CC increases the risk by 2.472-fold, and the C allele increases the risk by 2.115-fold. Additionally, the results showed that the TT genotype of the SCUBE3 rs1888822 gene increases the risk of SLE by 3.702-fold, the dominant GT + TT increases the risk by 2.304-fold, and the T allele increases the risk by 2.089-fold, while the GT genotype increases the risk by 1.918-fold. The study revealed significant associations between the genotypes of these polymorphisms and certain clinical parameters in SLE patients. These findings highlight the potential genetic contributions to SLE susceptibility and its clinical manifestations, providing valuable insights for future research and potential personalized approaches to the management of this complex autoimmune disease.

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来源期刊
CiteScore
3.50
自引率
0.00%
发文量
38
审稿时长
>12 weeks
期刊介绍: The Journal of Immunoassay & Immunochemistry is an international forum for rapid dissemination of research results and methodologies dealing with all aspects of immunoassay and immunochemistry, as well as selected aspects of immunology. They include receptor assay, enzyme-linked immunosorbent assay (ELISA) in all of its embodiments, ligand-based assays, biological markers of ligand-receptor interaction, in vivo and in vitro diagnostic reagents and techniques, diagnosis of AIDS, point-of-care testing, clinical immunology, antibody isolation and purification, and others.
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Emerging therapies and innovations in vitiligo management: a comprehensive review. Molecular dynamics simulation and purification of chimeric L1/L2 protein from human papillomavirus type 52 expressed in Escherichia coli BL21 (DE3). Biochemical study of ZNF76 rs10947540 and SCUBE3 rs1888822 single nucleotide polymorphisms in the Egyptian patients with systemic lupus Erythematosus. Correction. The value of immunohistochemical expression of SOX9 and CD34 in alopecia areata.
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