| Title: | A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese |
| Authors: | Okada, Yukinori Browse this author |
| Shimane, Kenichi Browse this author |
| Kochi, Yuta Browse this author →KAKEN DB |
| Tahira, Tomoko Browse this author →KAKEN DB |
| Suzuki, Akari Browse this author →KAKEN DB |
| Higasa, Koichiro Browse this author →KAKEN DB |
| Takahashi, Atsushi Browse this author |
| Horita, Tetsuya Browse this author →KAKEN DB |
| Atsumi, Tatsuya Browse this author →KAKEN DB |
| Ishii, Tomonori Browse this author →KAKEN DB |
| Okamoto, Akiko Browse this author →KAKEN DB |
| Fujio, Keishi Browse this author →KAKEN DB |
| Hirakata, Michito Browse this author →KAKEN DB |
| Amano, Hirofumi Browse this author →KAKEN DB |
| Kondo, Yuya Browse this author →KAKEN DB |
| Ito, Satoshi Browse this author |
| Takada, Kazuki Browse this author |
| Mimori, Akio Browse this author →KAKEN DB |
| Saito, Kazuyoshi Browse this author →KAKEN DB |
| Kamachi, Makoto Browse this author →KAKEN DB |
| Kawaguchi, Yasushi Browse this author →KAKEN DB |
| Ikari, Katsunori Browse this author →KAKEN DB |
| Mohamme, Osman Wael Browse this author |
| Matsuda, Koichi Browse this author →KAKEN DB |
| Terao, Chikashi Browse this author |
| Ohmura, Koichiro Browse this author →KAKEN DB |
| Myouzen, Keiko Browse this author |
| Hosono, Naoya Browse this author |
| Tsunoda, Tatsuhiko Browse this author →KAKEN DB |
| Nishimoto, Norihiro Browse this author |
| Mimori, Tsuneyo Browse this author →KAKEN DB |
| Matsuda, Fumihiko Browse this author →KAKEN DB |
| Tanaka, Yoshiya Browse this author →KAKEN DB |
| Sumida, Takayuki Browse this author →KAKEN DB |
| Yamanaka, Hisashi Browse this author →KAKEN DB |
| Takasaki, Yoshinari Browse this author →KAKEN DB |
| Koike, Takao Browse this author →KAKEN DB |
| Horiuchi, Takahiko Browse this author →KAKEN DB |
| Hayashi, Kenshi Browse this author →KAKEN DB |
| Kubo, Michiaki Browse this author →KAKEN DB |
| Kamatani, Naoyuki Browse this author |
| Yamada, Ryo Browse this author →KAKEN DB |
| Nakamura, Yusuke Browse this author →KAKEN DB |
| Yamamoto, Kazuhiko Browse this author →KAKEN DB |
| Issue Date: | 26-Jan-2012 |
| Publisher: | The Public Library of Science |
| Journal Title: | PLoS Genetics |
| Volume: | 8 |
| Issue: | 1 |
| Start Page: | e1002455 |
| Publisher DOI: | 10.1371/journal.pgen.1002455 |
| Abstract: | 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. |
| Description: | This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
| Type: | article |
| URI: | http://hdl.handle.net/2115/62850 |
| Appears in Collections: | 医学院・医学研究院 (Graduate School of Medicine / Faculty of Medicine) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)
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