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. Copyright © 2010 Aya Kawasaki et al.
CITATION STYLE
A, K., I, I., S, I., T, H., D, G., I, M., … Tsuchiya, N. (2010). Association of TNFAIP3 polymorphism with susceptibility to systemic lupus erythematosus in a Japanese population. Journal of Biomedicine and Biotechnology, 2010, 207578. Retrieved from https://www.scopus.com/inward/record.uri?eid=2-s2.0-77953501119&doi=10.1155%2F2010%2F207578&partnerID=40&md5=8f6ceea379f5c0210d69a1ba02560aa0 https://pubmed.ncbi.nlm.nih.gov/20617138/
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