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A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese
http://hdl.handle.net/10069/28915
http://hdl.handle.net/10069/2891556fc8dbf-5341-4298-88dc-a49844456739
名前 / ファイル | ライセンス | アクション |
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PLoSGen8_1002455.pdf (436.9 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2012-08-02 | |||||
タイトル | ||||||
タイトル | A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese | |||||
言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
著者 |
Okada, Yukinori
× Okada, Yukinori× Shimane, Kenichi× Kochi, Yuta× Tahira, Tomoko× Suzuki, Akari× Higasa, Koichiro× Takahashi, Atsushi× Horita, Tetsuya× Atsumi, Tatsuya× Ishii, Tomonori× Okamoto, Akiko× Fujio, Keishi× Hirakata, Michito× Amano, Hirofumi× Kondo, Yuya× Ito, Satoshi× Takada, Kazuki× Mimori, Akio× Saito, Kazuyoshi× Kamachi, Makoto× Kawaguchi, Yasushi× Ikari, Katsunori× Mohammed, Osman Wael× Matsuda, Koichi× Terao, Chikashi× Ohmura, Koichiro× Myouzen, Keiko× Hosono, Naoya× Tsunoda, Tatsuhiko× Nishimoto, Norihiro× Mimori, Tsuneyo× Matsuda, Fumihiko× Tanaka, Yoshiya× Sumida, Takayuki× Yamanaka, Hisashi× Takasaki, Yoshinari× Koike, Takao× Horiuchi, Takahiko× Hayashi, Kenshi× Kubo, Michiaki× Kamatani, Naoyuki× Yamada, Ryo× Nakamura, Yusuke× Yamamoto, Kazuhiko |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | 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. | |||||
書誌情報 |
PLoS Genetics 巻 8, 号 1, p. e1002455, 発行日 2012-01 |
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出版者 | ||||||
出版者 | Public Library of Science | |||||
EISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 15537404 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1371/journal.pgen.1002455 | |||||
権利 | ||||||
権利情報 | © 2012 Okada et al. 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. | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | PLoS Genetics, 8(1), e1002455; 2012 |