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Recent studies identified  STAT4  (signal transducers and activators of transcription-4) as a susceptibility gene for systemic lupus erythematosus (SLE).  STAT1  is encoded adjacently to  STAT4  on 2q32.2-q32.3, upregulated in peripheral blood mononuclear cells from SLE patients, and functionally relevant to SLE. This study was conducted to test whether  STAT4  is associated with SLE in a Japanese population also, to identify the risk haplotype, and to examine the potential genetic contribution of  STAT1 . To accomplish these aims, we carried out a comprehensive association analysis of 52 tag single nucleotide polymorphisms (SNPs) encompassing the  STAT1 - STAT4  region.    Methods  In the first screening, 52 tag SNPs were selected based on HapMap Phase II JPT (Japanese in Tokyo, Japan) data, and case-control association analysis was carried out on 105 Japanese female patients with SLE and 102 female controls. For associated SNPs, additional cases and controls were genotyped and association was analyzed using 308 SLE patients and 306 controls. Estimation of haplotype frequencies and an association study using the permutation test were performed with Haploview version 4.0 software. Population attributable risk percentage was estimated to compare the epidemiological significance of the risk genotype among populations.    Results  In the first screening, rs7574865, rs11889341, and rs10168266 in  STAT4  were most significantly associated ( P  < 0.01). Significant association was not observed for  STAT1 . Subsequent association studies of the three SNPs using 308 SLE patients and 306 controls confirmed a strong association of the rs7574865T allele (SLE patients: 46.3%, controls: 33.5%,  P  = 4.9 × 10 -6 , odds ratio 1.71) as well as TTT haplotype (rs10168266/rs11889341/rs7574865) ( P  = 1.5 × 10 -6 ). The association was stronger in subgroups of SLE with nephritis and anti-double-stranded DNA antibodies. Population attributable risk percentage was estimated to be higher in the Japanese population (40.2%) than in Americans of European descent (19.5%).    Conclusions  The same  STAT4  risk allele is associated with SLE in Caucasian and Japanese populations. Evidence for a role of  STAT1  in genetic susceptibility to SLE was not detected. The contribution of  STAT4  for the genetic background of SLE may be greater in the Japanese population than in Americans of European descent.

Role of STAT4 polymorphisms in systemic lupus erythematosus in a Japanese population: a case-control association study of the STAT1-STAT4 region