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

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; Mohamme, 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

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

Okada, Yukinori; Shimane, Kenichi; Kochi, Yuta et al.

PLoS Genetics, 2012, 8(1), e1002455

Permalink : https://hdl.handle.net/2115/62850

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アクセス権	open access
URI	https://hdl.handle.net/2115/62850
タイトル	A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese
著者	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 ; Mohamme, 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
著者名 Okada, Yukinori
著者名 Shimane, Kenichi
e-Rad_Researcher 60415156 著者名 Kochi, Yuta
e-Rad_Researcher 50155230 著者名 Tahira, Tomoko
e-Rad_Researcher 00391996 著者名 Suzuki, Akari
e-Rad_Researcher 10419583 著者名 Higasa, Koichiro
著者名 Takahashi, Atsushi
e-Rad_Researcher 50399929 著者名 Horita, Tetsuya
e-Rad_Researcher 20301905 著者名 Atsumi, Tatsuya
e-Rad_Researcher 10282138 著者名 Ishii, Tomonori
e-Rad_Researcher 40431861 著者名 Okamoto, Akiko
e-Rad_Researcher 70401114 著者名 Fujio, Keishi
e-Rad_Researcher 30199046 著者名 Hirakata, Michito
e-Rad_Researcher 50318474 著者名 Amano, Hirofumi
e-Rad_Researcher 40612487 著者名 Kondo, Yuya
著者名 Ito, Satoshi
著者名 Takada, Kazuki
e-Rad_Researcher 40166111 著者名 Mimori, Akio
e-Rad_Researcher 30279327 著者名 Saito, Kazuyoshi
e-Rad_Researcher 00423632 著者名 Kamachi, Makoto
e-Rad_Researcher 90297549 著者名 Kawaguchi, Yasushi
e-Rad_Researcher 80343557 著者名 Ikari, Katsunori
著者名 Mohamme, Osman Wael
e-Rad_Researcher 90401257 著者名 Matsuda, Koichi
著者名 Terao, Chikashi
e-Rad_Researcher 40432372 著者名 Ohmura, Koichiro
著者名 Myouzen, Keiko
著者名 Hosono, Naoya
e-Rad_Researcher 10273468 著者名 Tsunoda, Tatsuhiko
著者名 Nishimoto, Norihiro
e-Rad_Researcher 10157589 著者名 Mimori, Tsuneyo
e-Rad_Researcher 50212220 著者名 Matsuda, Fumihiko
e-Rad_Researcher 30248562 著者名 Tanaka, Yoshiya
e-Rad_Researcher 00183054 著者名 Sumida, Takayuki
e-Rad_Researcher 10166754 著者名 Yamanaka, Hisashi
e-Rad_Researcher 80154772 著者名 Takasaki, Yoshinari
e-Rad_Researcher 80146795 著者名 Koike, Takao
e-Rad_Researcher 90219212 著者名 Horiuchi, Takahiko
e-Rad_Researcher 00019671 著者名 Hayashi, Kenshi
e-Rad_Researcher 30442958 著者名 Kubo, Michiaki
著者名 Kamatani, Naoyuki
e-Rad_Researcher 50301106 著者名 Yamada, Ryo
e-Rad_Researcher 70217909 著者名 Nakamura, Yusuke
e-Rad_Researcher 80191394 著者名 Yamamoto, Kazuhiko
言語	英語
発行日	2012-01-26
出版者	The Public Library of Science
収録物名	PLoS Genetics
巻(号)	8(1)
ページ	e1002455
記述	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.
抄録	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.
資源タイプ	学術雑誌論文
出版タイプ	Version of Record
PISSN	1553-7404
関連情報 (isIdenticalTo)	出版社版DOI https://doi.org/10.1371/journal.pgen.1002455