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A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese

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Please use this identifier to cite or link to this item:http://hdl.handle.net/2115/62850

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)

Submitter: 小池 隆夫

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