Abstract：
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.
摘要：
系统性红斑狼疮（SLE）是一种常见的自身免疫性疾病，其特征是凋亡碎片的形成和靶向核成分的自身抗体的存在。此时此刻,SLE的实际病因尚不确定。遗传变量已被充分证明在SLE倾向中具有重要作用。本研究旨在探讨（ZNF76）rs（10947540）和（SCUBE）rs（1888822）基因多态性在系统性红斑狼疮患者中的作用。在内科医学生物化学与分子生物学和风湿病科进行了病例对照研究，医学院,梅诺菲亚大学，埃及,2022年6月1日至2023年6月1日，为期1年。60例患者为女性（75％），20例患者为男性（25％）。他们的年龄从19岁到53岁不等。他们的病程从7个月到20年不等。结果表明，ZNF76rs10947540基因的TC基因型使SLE的风险增加了2.274倍，而占主导地位的TC+CC增加了2.472倍的风险，和C等位基因增加2.115倍的风险。此外,结果表明，SCUBE3rs1888822基因的TT基因型使SLE的风险增加3.702倍，显性GT+TT使风险增加2.304倍，T等位基因增加了2.089倍的风险，而GT基因型的风险增加1.918倍。该研究揭示了SLE患者中这些多态性的基因型与某些临床参数之间的显着关联。这些发现强调了SLE易感性及其临床表现的潜在遗传贡献。为未来的研究和潜在的个性化方法提供有价值的见解，以管理这种复杂的自身免疫性疾病。
