Kawasaki Aya, Ito Ikue, Ito Satoshi, Hayashi Taichi, Goto Daisuke, Matsumoto Isao, Takasaki Yoshinari, Hashimoto Hiroshi, Sumida Takayuki, Tsuchiya Naoyuki
Doctoral Program in Life System Medical Sciences, Graduate School of Comprehensive Human Sciences, University of Tsukuba, Tsukuba 305-8575, Japan.
J Biomed Biotechnol. 2010;2010:207578. doi: 10.1155/2010/207578. Epub 2010 May 27.
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.
近期全基因组关联研究表明，在欧美人群中，位于6q23的TNFAIP3区域单核苷酸多态性（SNP）与系统性红斑狼疮（SLE）相关。在本研究中，我们调查了TNFAIP3区域的SNP在日本人群中是否也与SLE相关。对318例日本SLE患者和444例健康对照进行了rs13192841、rs2230926和rs6922466这几个SNP的病例对照关联研究。rs2230926的G等位基因与SLE的关联在日本人群中得到重复验证（等位基因关联P = 0.033，优势比[OR] 1.47，隐性模型P = 0.023，OR 8.52）。这种关联在患有肾炎的SLE患者中更易观察到。当使用GENEVAR数据库检测HapMap样本的TNFAIP3 mRNA水平时，TNFAIP3 rs2230926 G等位基因的存在与TNFAIP3较低的mRNA表达相关（P = 0.013）。这些结果表明，TNFAIP3在白种人和亚洲人群中都是SLE的易感基因。
