Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population

被引：261

作者：

Okada, Yukinori ^{[1
,2
,3
]}

Terao, Chikashi ^{[4
,5
]}

Ikari, Katsunori ^{[6
]}

Kochi, Yuta ^{[2
]}

Ohmura, Koichiro ^{[5
]}

Suzuki, Akari ^{[1
]}

Kawaguchi, Takahisa ^{[4
]}

Stahl, Eli A. ^{[7
,8
]}

Kurreeman, Fina A. S. ^{[7
,8
,9
]}

Nishida, Nao ^{[10
]}

Ohmiya, Hiroko ^{[3
]}

Myouzen, Keiko ^{[1
]}

Takahashi, Meiko ^{[4
]}

Sawada, Tetsuji ^{[11
]}

Nishioka, Yuichi ^{[12
]}

Yukioka, Masao ^{[13
]}

Matsubara, Tsukasa ^{[14
]}

Wakitani, Shigeyuki ^{[15
]}

Teshima, Ryota ^{[16
]}

Tohma, Shigeto ^{[17
]}

Takasugi, Kiyoshi ^{[18
]}

Shimada, Kota ^{[17
]}

Murasawa, Akira ^{[19
]}

Honjo, Shigeru ^{[20
]}

Matsuo, Keitaro ^{[21
]}

Tanaka, Hideo ^{[21
]}

Tajima, Kazuo ^{[22
]}

Suzuki, Taku ^{[6
,23
]}

Iwamoto, Takuji ^{[6
,23
]}

Kawamura, Yoshiya ^{[24
]}

Tanii, Hisashi ^{[25
]}

Okazaki, Yuji ^{[26
]}

Sasaki, Tsukasa ^{[27
]}

Gregersen, Peter K. ^{[28
]}

Padyukov, Leonid ^{[29
,30
]}

Worthington, Jane ^{[31
]}

Siminovitch, Katherine A. ^{[32
,33
]}

Lathrop, Mark ^{[34
,35
]}

Taniguchi, Atsuo ^{[6
]}

Takahashi, Atsushi ^{[3
]}

Tokunaga, Katsushi ^{[10
]}

Kubo, Michiaki ^{[36
]}

Nakamura, Yusuke ^{[37
]}

Kamatani, Naoyuki ^{[38
]}

Mimori, Tsuneyo ^{[5
]}

Plenge, Robert M. ^{[7
,8
]}

Yamanaka, Hisashi ^{[6
]}

Momohara, Shigeki ^{[6
]}

Yamada, Ryo ^{[39
]}

Matsuda, Fumihiko ^{[4
,40
,41
]}

机构：

[1] RIKEN, Lab Autoimmune Dis, CGM, Yokohama, Kanagawa, Japan

[2] Univ Tokyo, Grad Sch Med, Dept Allergy & Rheumatol, Tokyo, Japan

[3] RIKEN, Lab Stat Anal, CGM, Yokohama, Kanagawa, Japan

[4] Kyoto Univ, Ctr Genom Med, Grad Sch Med, Kyoto, Japan

[5] Kyoto Univ, Grad Sch Med, Dept Rheumatol & Clin Immunol, Kyoto, Japan

[6] Tokyo Womens Med Univ, Inst Rheumatol, Tokyo, Japan

[7] Harvard Univ, Brigham & Womens Hosp, Sch Med, Div Rheumatol Immunol & Allergy, Boston, MA 02115 USA

[8] Broad Inst, Cambridge, MA USA

[9] Leiden Univ, Med Ctr, Dept Rheumatol, Leiden, Netherlands

[10] Univ Tokyo, Dept Human Genet, Grad Sch Med, Tokyo, Japan

[11] Tokyo Med Univ Hosp, Dept Rheumatol, Tokyo, Japan

[12] Yamanashi Prefectural Cent Hosp, Yamanashi, Japan

[13] Yukioka Hosp, Dept Orthopaed Surg, Osaka, Japan

[14] Matsubara Mayflower Hosp, Hyogo, Japan

[15] Osaka Minami Natl Hosp, Osaka, Japan

[16] Tottori Univ, Dept Orthoped Surg, Tottori 680, Japan

[17] Sagamihara Hosp, Natl Hosp Org, Dept Rheumatol, Sagamihara, Kanagawa, Japan

[18] Dohgo Spa Hosp, Ctr Rheumat Dis, Matsuyama, Ehime, Japan

[19] Niigata Rheumat Ctr, Dept Rheumatol, Niigata, Japan

[20] Saiseikai Takaoka Hosp, Toyama, Japan

[21] Aichi Canc Ctr, Div Epidemiol & Prevent, Res Inst, Aichi, Japan

[22] Aichi Canc Ctr Hosp & Res Inst, Aichi, Japan

[23] Keio Univ, Dept Orthopaed Surg, Tokyo, Japan

[24] Warakukai Med Corp, Yokohama Clin, Yokohama, Kanagawa, Japan

[25] Mie Univ, Sch Med, Dept Psychiat, Tsu, Mie, Japan

[26] Metropolitan Matsuzawa Hosp, Tokyo, Japan

[27] Univ Tokyo, Grad Sch Educ, Tokyo, Japan

[28] N Shore Long Isl Jewish Hlth Syst, Feinstein Inst Med Res, Manhasset, NY USA

[29] Karolinska Inst, Rheumatol Unit, Dept Med Solna, Stockholm, Sweden

[30] Karolinska Univ Hosp, Stockholm, Sweden

[31] Univ Manchester, Manchester Acad Hlth Sci Ctr, Arthrit Res Campaign Epidemiol Unit, Manchester, Lancs, England

[32] Univ Toronto, Mt Sinai Hosp, Div Med, Toronto, ON M5G 1X5, Canada

[33] Univ Hlth Network, Toronto, ON, Canada

[34] Ctr Natl Genotypage, CEA, Inst Genom, Evry, France

[35] Fdn Jean Dausset, Ctr Etud Polymorphisme Humain, Paris, France

[36] RIKEN, CGM, Lab Genotyping Dev, Yokohama, Kanagawa, Japan

[37] Univ Tokyo, Inst Med Sci, Ctr Human Genome, Lab Mol Med, Tokyo, Japan

[38] RIKEN, CGM, Lab Int Alliance, Yokohama, Kanagawa, Japan

[39] Kyoto Univ, Grad Sch Med, Unit Stat Genet, Ctr Genom Med, Kyoto, Japan

[40] Japan Sci & Technol Agcy, CREST Program, Kawaguchi, Saitama, Japan

[41] Kyoto Univ, Grad Sch Med, INSERM, Unite U852, Kyoto, Japan

来源：

NATURE GENETICS | 2012年 / 44卷 / 05期

基金：

日本学术振兴会;

关键词：

GENOME-WIDE ASSOCIATION; SINGLE-NUCLEOTIDE POLYMORPHISM; RISK LOCUS; SUSCEPTIBILITY; GENE; PROMOTER; VARIANT; REGION;

D O I：

10.1038/ng.2231

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Rheumatoid arthritis is a common autoimmune disease characterized by chronic inflammation. We report a meta-analysis of genome-wide association studies (GWAS) in a Japanese population including 4,074 individuals with rheumatoid arthritis (cases) and 16,891 controls, followed by a replication in 5,277 rheumatoid arthritis cases and 21,684 controls. Our study identified nine loci newly associated with rheumatoid arthritis at a threshold of P < 5.0 x 10(-8), including B3GNT2, ANXA3, CSF2, CD83, NFKBIE, ARID5B, PDE2A-ARAP1, PLD4 and PTPN2. ANXA3 was also associated with susceptibility to systemic lupus erythematosus (P = 0.0040), and B3GNT2 and ARID5B were associated with Graves' disease (P = 3.5 x 10(-4) and 2.9 x 10(-4), respectively). We conducted a multi-ancestry comparative analysis with a previous meta-analysis in individuals of European descent (5,539 rheumatoid arthritis cases and 20,169 controls). This provided evidence of shared genetic risks of rheumatoid arthritis between the populations.

引用

页码：511 / +

页数：7

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