Association of TNFAIP3 Polymorphism with Susceptibility to Systemic Lupus Erythematosus in a Japanese Population

Abstract EN

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.