Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population.
Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population.
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TNFAIP3，IFIH1，IRF5多态性的遗传关联研究中国汉族中的多态性/多态性。
DOI：
10.1371/journal.pone.0110044
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发表时间：
2014
期刊：
影响因子：
3.7
通讯作者：
Li Y
中科院分区：
文献类型：
--
作者：
Chen S;Wang Q;Wu Z;Li Y;Li P;Sun F;Zheng W;Wu Q;Wu C;Deng C;Zhang F;Li Y
TNFAIP 3、IFIH 1和IRF 5基因的单核苷酸多态性（SNP）与几种自身炎症疾病相关，而这些基因与特发性炎性肌病（IIMs）之间的易感性尚未报道。本研究旨在探讨TNFAIP 3、IFIH 1和IRF 5基因多态性是否与中国汉族人群IIM的易感性相关。对298例多发性肌炎（PM）和530例皮肌炎（DM）患者进行了一项大型病例对照研究。 968名健康和种族匹配的对照可用于比较。使用Sequenom MassArray iPLEX平台对TNFAIP 3区域（rs 2230926和rs 5029939）、IFIH 1基因（rs 1990760和rs3747517）和IRF 5区域（rs 4728142和rs729302）中的6个SNP进行评估和基因分型。我们的研究表明，在PM/DM和PM患者中观察到rs 2230926（OR：1.61，95%CI：1.20-2.16，Pc = 7.5×10−3; OR：1.88，95%CI：1.30-2.74，Pc = 4.0×10−3）和rs 5029939（OR：1.64，95%CI：1.21-2.21，Pc = 6.0×10−3; OR：1.88，95%CI：1.28-2.76，Pc = 5.5×10−3）的强等位基因关联。 rs 2230926和rs 5029939与PM/DM和PM患者的间质性肺疾病（ILD）显著相关（分别为Pc= 0.04和Pc = 0.016; Pc = 0.02和Pc =0.03）。 此外，rs 4728142等位基因和基因型与PM/DM患者有显著相关性（Pc = 0.026和Pc = 0.048）。 进一步用3种Logistic回归遗传模型分析，发现加性和显性模型在PM/DM、PM和DM患者中的基因型分布差异有统计学意义。本研究首次发现TNFAIP 3和IRF 5基因多态性与PM/DM患者或这些患者的ILD相关，提示TNFAIP 3和IRF 5可能是中国汉族人群PM/DM患者的易感基因。
Single-nucleotide polymorphisms (SNPs) in the TNFAIP3, IFIH1, and IRF5 genes have been associated with several auto-inflammation diseases, while the susceptibility between these genes and idiopathic inflammatory myopathies (IIMs) were not reported. This study aimed to investigate whether TNFAIP3, IFIH1, and IRF5 gene polymorphisms confer susceptibility for the IIMs in Chinese Han population. A large case–control study of Chinese subjects with polymyositis (PM) (n = 298) and dermatomyositis (DM) (n = 530) was accomplished. 968 healthy and ethnically matched controls were available for comparison. Six SNPs in the TNFAIP3 region (rs2230926 and rs5029939), the IFIH1 gene (rs1990760 and rs3747517) and the IRF5 region (rs4728142 and rs729302) were assessed and genotyped using the Sequenom MassArray iPLEX platform. Our study indicated a strong allele association was observed in PM/DM and PM patients for rs2230926 (OR: 1.61, 95%CI: 1.20–2.16, Pc = 7.5×10−3; OR: 1.88, 95%CI: 1.30–2.74, Pc = 4.0×10−3, respectively) and rs5029939 (OR: 1.64, 95%CI: 1.21–2.21, Pc = 6.0×10−3; OR: 1.88, 95%CI: 1.28–2.76, Pc = 5.5×10−3,respectively). And rs2230926 and rs5029939 were significantly associated with interstitial lung disease (ILD) in PM/DM and PM patients (Pc = 0.04 and Pc = 0.016; Pc = 0.02 and Pc = 0.03, respectively). In addition, rs4728142 allele and genotype had significant association with PM/DM patients (Pc = 0.026 and Pc = 0.048, respectively). Further analysis with three logistic regression genetic models revealed statistically significant difference in the genotypic distribution in the PM/DM, PM or DM patients when the additive and dominant models were used. This was the first study to reveal TNFAIP3 and IRF5 polymorphisms were associated with PM/DM patients or these patients with ILD, indicating that TNFAIP3 and IRF5 might be the susceptibility gene for PM/DM patients in Chinese Han population.
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