@article{oai:nagasaki-u.repo.nii.ac.jp:00010426,
 author = {Okada, Yukinori and Shimane, Kenichi and Kochi, Yuta and Tahira, Tomoko and Suzuki, Akari and Higasa, Koichiro and Takahashi, Atsushi and Horita, Tetsuya and Atsumi, Tatsuya and Ishii, Tomonori and Okamoto, Akiko and Fujio, Keishi and Hirakata, Michito and Amano, Hirofumi and Kondo, Yuya and Ito, Satoshi and Takada, Kazuki and Mimori, Akio and Saito, Kazuyoshi and Kamachi, Makoto and Kawaguchi, Yasushi and Ikari, Katsunori and Mohammed, Osman Wael and Matsuda, Koichi and Terao, Chikashi and Ohmura, Koichiro and Myouzen, Keiko and Hosono, Naoya and Tsunoda, Tatsuhiko and Nishimoto, Norihiro and Mimori, Tsuneyo and Matsuda, Fumihiko and Tanaka, Yoshiya and Sumida, Takayuki and Yamanaka, Hisashi and Takasaki, Yoshinari and Koike, Takao and Horiuchi, Takahiko and Hayashi, Kenshi and Kubo, Michiaki and Kamatani, Naoyuki and Yamada, Ryo and Nakamura, Yusuke and Yamamoto, Kazuhiko},
 issue = {1},
 journal = {PLoS Genetics},
 month = {Jan},
 note = {Systemic lupus erythematosus (SLE) is an autoimmune disease that causes multiple organ damage. Although recent genome-wide association studies (GWAS) have contributed to discovery of SLE susceptibility genes, few studies has been performed in Asian populations. Here, we report a GWAS for SLE examining 891 SLE cases and 3,384 controls and multi-stage replication studies examining 1,387 SLE cases and 28,564 controls in Japanese subjects. Considering that expression quantitative trait loci (eQTLs) have been implicated in genetic risks for autoimmune diseases, we integrated an eQTL study into the results of the GWAS. We observed enrichments of cis-eQTL positive loci among the known SLE susceptibility loci (30.8%) compared to the genome-wide SNPs (6.9%). In addition, we identified a novel association of a variant in the AF4/FMR2 family, member 1 (AFF1) gene at 4q21 with SLE susceptibility (rs340630; P = 8.3×10 -9, odds ratio = 1.21). The risk A allele of rs340630 demonstrated a cis-eQTL effect on the AFF1 transcript with enhanced expression levels (P&0.05). As AFF1 transcripts were prominently expressed in CD4 + and CD19 + peripheral blood lymphocytes, up-regulation of AFF1 may cause the abnormality in these lymphocytes, leading to disease onset., PLoS Genetics, 8(1), e1002455; 2012},
 title = {A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese},
 volume = {8},
 year = {2012}
}