Replication study of STAT4 rs7574865 G/T polymorphism and risk of rheumatoid arthritis in a Chinese population
Replication study of STAT4 rs7574865 G/T polymorphism and risk of rheumatoid arthritis in a Chinese population
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DOI：
10.1016/j.gene.2013.05.022
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发表时间：
2013-09-10
期刊：
影响因子：
3.5
通讯作者：
Tang, Peifu
中科院分区：
文献类型：
--
作者：
Shen, Li;Liu, Ruiping;Tang, Peifu
目的：类风湿关节炎(RA)和强直性脊柱炎(AS)是常见的系统性自身免疫性疾病，具有遗传和环境诱因。信号转导和转录激活因子4(STAT4)负责传递白介素12、白介素23和干扰素-γ诱导的信号，这些细胞因子在自身免疫性疾病的发生发展中起着重要作用。既往研究证实STAT4rs7574865G/T基因座与类风湿关节炎相关。因此，我们进行了一项复制研究，以研究STAT4 rs7574865 G/T基因多态性与RA/AS易感性的关系。方法：我们研究了520例RA患者中STAT4 rs7574865 G/T基因的多态性。中国人群中100例AS患者和520例对照。采用基质辅助激光解吸电离飞行时间质谱仪(MALDI-TOF MS)进行基因分型。结果：以STAT4 rs7574865 GG纯合子为参照组，GT或GT/TT基因型与RA发病风险相关。经过分层分析，与STAT4 rs7574865 GT基因型相比，类风湿因子(RF)阳性患者、血沉(ESR)水平较高的患者以及RA疾病活动性评分(DAS28)较STAT4 rs7574865 GT基因相关的RA风险显著增加。在老年患者和RF阴性患者中，与STAT4 rs7574865 GG基因相比，与STAT4 rs7574865 11基因相关的RA的风险明显增加。结论：STAT4基因rs7574865G/T多态性与类风湿关节炎的易感性无关。摘要：STAT4基因多态性与风湿性关节炎风险(C)2013爱思唯尔公司保留所有权利。
Aim: Rheumatoid arthritis (RA) and ankylosing spondylitis (AS) are common systemic autoimmune diseases with genetic and environmental predisposing factors. Signal transducer and activator of transcription 4 (STAT4) transmits signals induced by interleukin-12, interleukin-23 and interferon-gamma, which are key cytokines and play important roles in the development of autoimmune diseases. Previous studies confirmed the STAT4 rs7574865 G/T locus to be associated with RA. Thus we conducted a replication study to investigate STAT4 rs7574865 G/T polymorphism and RA/AS susceptibility in a Chinese population.Methods: We studied STAT4 rs7574865 G/T gene polymorphism in 520 patients with RA,. 100 AS patients and 520 controls in a Chinese population. Genotyping was done using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS).Results: When the STAT4 rs7574865 GG homozygote genotype was used as the reference group, the GT or GT/TT genotypes were associated with the risk for RA. After stratification analyses, a significantly increased risk for RA associated with the STAT4 rs7574865 GT genotype was evident among the rheumatoid factor (RF)-positive patients, patients with higher erythrocyte sedimentation rate (ESR) level and patients with higher RA disease activity score (DAS28) compared with the STAT4 rs7574865 GG genotype. A significantly increased risk for RA associated with the STAT4 rs7574865 11 genotype was evident among older patients and RF-negative patients compared with the STAT4 rs7574865 GG genotype. STAT4 rs7574865 G/T was not associated with susceptibility to AS.Conclusion: This replication study confirmed that STAT4 rs7574865 G/T polymorphism was associated with the risk of RA. Condensed abstract: STAT4 polymorphisms are associated with rheumatoid arthritis risk (C) 2013 Elsevier B.V. All rights reserved.