Association of TNFAIP3 polymorphism with susceptibility to systemic lupus erythematosus in a Japanese population.
Association of TNFAIP3 polymorphism with susceptibility to systemic lupus erythematosus in a Japanese population.
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DOI：
10.1155/2010/207578
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发表时间：
2010
影响因子：
--
通讯作者：
Tsuchiya N
中科院分区：
文献类型：
--
作者：
Kawasaki A;Ito I;Ito S;Hayashi T;Goto D;Matsumoto I;Takasaki Y;Hashimoto H;Sumida T;Tsuchiya N
最近的全基因组关联研究表明，TNFAIP3区域6q23的单核苷酸多态性（SNP）与欧美人群中的系统性红斑狼疮（SLE）相关。在这项研究中，我们调查了TNFAIP3区域的SNPs是否也与日本人群中的SLE相关。在318名日本SLE患者和444名健康对照中对SNPs rs13192841、rs2230926和rs6922466进行了病例对照关联研究。rs2230926 G等位基因与SLE的相关性在日本人中重复（等位基因相关性P = 0.033，比值比[OR] 1.47，隐性模型P = 0.023，OR 8.52）。这种关联在SLE伴肾炎患者中优先观察到。当使用GENEVAR数据库检查HapMap样品的TNFAIP3 mRNA水平时，TNFAIP3 rs2230926 G等位基因的存在与TNFAIP3的较低mRNA表达相关（P = .013）。这些结果表明TNFAIP 3是白人和亚洲人群中SLE的易感基因。
Recent genome-wide association studies demonstrated association of single nucleotide polymorphisms (SNPs) in the TNFAIP3 region at 6q23 with systemic lupus erythematosus (SLE) in European-American populations. In this study, we investigated whether SNPs in the TNFAIP3 region are associated with SLE also in a Japanese population. A case-control association study was performed on the SNPs rs13192841, rs2230926, and rs6922466 in 318 Japanese SLE patients and 444 healthy controls. Association of rs2230926 G allele with SLE was replicated in Japanese (allelic association P = .033, odds ratio [OR] 1.47, recessive model P = .023, OR 8.52). The association was preferentially observed in the SLE patients with nephritis. When the TNFAIP3 mRNA levels of the HapMap samples were examined using GENEVAR database, the presence of TNFAIP3 rs2230926 G allele was associated with lower mRNA expression of TNFAIP3 (P = .013). These results indicated that TNFAIP3 is a susceptibility gene to SLE both in the Caucasian and Asian populations.
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