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PER2基因单核苷酸多态性与系统性红斑狼疮遗传易感性的关联

Association of PER2 gene single nucleotide polymorphisms with genetic susceptibility to systemic lupus erythematosus.

作者信息

Dan Yi-Lin, Zhao Chan-Na, Mao Yan-Mei, Wu Qian, He Yi-Sheng, Hu Yu-Qian, Xiang Kun, Yang Xiao-Ke, Sam Napoleon Bellua, Wu Guo-Cui, Pan Hai-Feng

机构信息

Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Anhui, China.

Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Anhui, China.

出版信息

Lupus. 2021 Apr;30(5):734-740. doi: 10.1177/0961203321989794. Epub 2021 Jan 26.

Abstract

The circadian clock plays a crucial role in the progress of systemic lupus erythematosus (SLE). In this study, we performed a case-control study to explore the association between 2 (PER2) gene single nucleotide polymorphisms (SNPs) and the susceptibility of systemic lupus erythematosus (SLE). A total of 492 SLE patients and 493 healthy controls were included. The improved multiple ligase detection reaction (iMLDR) was used for genotyping. The correlations between four SNPs of PER2 (rs10929273, rs11894491, rs36124720, rs934945) and the genetic susceptibility and clinical manifestations of SLE were analyzed. Significant differences were observed in the distributions of allele frequencies and genotype under dominant model in rs11894491 between SLE patients and controls ( = 0.030,  = 022, respectively). We hypothesized that PER2 gene SNPs was related to the genetic susceptibility and clinical manifestations, implying the potential role of PER2 in the pathogenesis of SLE.

摘要

昼夜节律时钟在系统性红斑狼疮(SLE)的进展中起着至关重要的作用。在本研究中,我们进行了一项病例对照研究,以探讨周期蛋白2(PER2)基因单核苷酸多态性(SNP)与系统性红斑狼疮(SLE)易感性之间的关联。共纳入492例SLE患者和493例健康对照。采用改进的多重连接酶检测反应(iMLDR)进行基因分型。分析了PER2的四个SNP(rs10929273、rs11894491、rs36124720、rs934945)与SLE遗传易感性及临床表现之间的相关性。SLE患者和对照组在rs11894491的显性模型下,等位基因频率和基因型分布存在显著差异(分别为=0.030,=022)。我们推测PER2基因SNP与遗传易感性和临床表现有关,这意味着PER2在SLE发病机制中具有潜在作用。

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