A single-nucleotide polymorphism of the STAT4 gene is associated with systemic lupus erythematosus (SLE) in female Chinese population
A single-nucleotide polymorphism of the STAT4 gene is associated with systemic lupus erythematosus (SLE) in female Chinese population
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DOI：
10.1007/s00296-010-1767-9
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发表时间：
2012-05
影响因子：
4
通讯作者：
Haixia Luan;Ping Li;Chunwei Cao;Chaohua Li;Chao-jun Hu;Shu-lan Zhang;Xiaofeng Zeng;Fengchun Zhang;Changqing Zeng;Yongzhe Li
中科院分区：
文献类型：
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作者：
Haixia Luan;Ping Li;Chunwei Cao;Chaohua Li;Chao-jun Hu;Shu-lan Zhang;Xiaofeng Zeng;Fengchun Zhang;Changqing Zeng;Yongzhe Li
系统性红斑狼疮（SLE）是一种典型的自身免疫性疾病，具有复杂的遗传特征。在包括亚洲人在内的多个人群中，信号换能器和转录激活子4 （STAT4）与SLE易感性的遗传关联已经得到了令人信服的证实，然而关于STAT4多态性与SLE亚表型之间的遗传关系的研究却很少进行。本研究选择中国女性人群，研究STAT4基因（rs7582694）多态性与SLE的遗传关系。此外，还进行了基于11种临床表现分类的不同亚群的遗传关联检测。本研究共纳入675名SLE女性患者和678名健康对照者，使用Sequenom的MassArray系统（Sequenom iPLEX检测）进行SNP基因分型。我们的研究强有力地证明了rs7582694对SLE的遗传易感性（X2= 23.7, OR = 0.68, 95% CI: 0.58-0.79，P= 1.13 × 10−6），而rs7582694与任何临床表现之间没有关联。我们的研究结果显示STAT4 rs7582694 SNP与SLE存在显著相关性，这些结果与前人的研究结果一致。
Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease with complex genetic inheritance. Genetic association of signal transducer and activator of transcription 4 (STAT4) with SLE susceptibility has been convincingly established in multiple populations including Asians, whereas studies of genetic relations between STAT4 polymorphisms and subphenotypes of SLE were rarely conducted. In this study, we selected Chinese female population and investigated genetic association between a polymorphism of STAT4 gene (rs7582694) and SLE. Furthermore, genetic association tests based on different subsets classified by 11 clinical manifestations were also performed. A total of 675 SLE female patients and 678 healthy controls were enrolled into this study, and SNP genotyping was performed using Sequenom’s MassArray system (Sequenom iPLEX assay). Our study showed strong evidence for genetic predisposition of rs7582694 to SLE (X2= 23.7, OR = 0.68, 95% CI: 0.58–0.79,P= 1.13 × 10−6), while no association was observed between rs7582694 and any clinical presentations. The results of our study demonstrated that STAT4 rs7582694 SNP was significantly associated with SLE, and these results were in accordance with previous studies.