A trans-ethnic genetic study of rheumatoid arthritis identified FCGR2A as a candidate common risk factor in Japanese and European populations

被引：15

作者：

Meziani, Roubila ^{[2
,3
,4
]}

Yamada, Ryo ^{[1
]}

Takahashi, Meiko ^{[1
]}

Ohigashi, Kenei ^{[1
]}

Morinobu, Akio ^{[5
]}

Terao, Chikashi ^{[1
,6
]}

Hiratani, Hitomi ^{[1
,2
]}

Ohmura, Koichiro ^{[6
]}

Yamaguchi, Masao ^{[1
,2
]}

Nomura, Takashi ^{[7
]}

Vasilescu, Alexandre ^{[1
,8
]}

Kokubo, Miki ^{[1
,2
]}

Renault, Victor ^{[1
,2
]}

Hirosawa, Katsura ^{[1
,2
]}

Ratanajaraya, Chanavee ^{[1
]}

Heath, Simon ^{[3
]}

Mimori, Tsuneyo ^{[6
]}

Sakaguchi, Shimon ^{[7
]}

Lathrop, Mark ^{[3
,4
]}

Melchers, Inga ^{[9
]}

Kumagai, Shunichi ^{[5
]}

Matsuda, Fumihiko ^{[1
,2
,3
,8
]}

机构：

[1] Kyoto Univ, Ctr Genom Med, Grad Sch Med, Kyoto 6068501, Japan

[2] Japan Sci & Technol Agcy, CREST Program, Kawaguchi, Saitama 3320012, Japan

[3] Commissariat Energie Atom, Ctr Natl Genotypage, Inst Genom, F-91057 Evry, France

[4] Fdn Jean Dausset CEPH, F-75010 Paris, France

[5] Kobe Univ, Dept Clin Pathol & Immunol, Grad Sch Med, Kobe, Hyogo 6500017, Japan

[6] Kyoto Univ, Dept Rheumatol & Clin Immunol, Grad Sch Med, Kyoto 6068507, Japan

[7] Kyoto Univ, Inst Frontier Med Sci, Kyoto 6068507, Japan

[8] Kyoto Univ, INSERM, Unite U852, Kyoto 6068501, Japan

[9] Univ Med Ctr Freiburg, Clin Res Unit Rheumatol, Dept Rheumatol & Clin Immunol, D-79106 Freiburg, Germany

来源：

MODERN RHEUMATOLOGY | 2012年 / 22卷 / 01期

基金：

日本科学技术振兴机构;

关键词：

FCGR2A; Genotyping; Rheumatoid arthritis; Single nucleotide polymorphism; Trans-ethnic study; SYSTEMIC-LUPUS-ERYTHEMATOSUS; GENOME-WIDE ASSOCIATION; COPY NUMBER; IIIB POLYMORPHISMS; DISEASE; METAANALYSIS; NUCLEOTIDE; EXPRESSION; LINKAGE; PTPN22;

D O I：

10.1007/s10165-011-0467-y

中图分类号：

R5 [内科学];

学科分类号：

100201 [内科学];

摘要：

Rheumatoid arthritis (RA) is a common systemic autoimmune disease and its onset and prognosis are controlled by genetic, immunological, and environmental factors. The HLA locus, particularly HLA-DRB1, is its strongest genetic risk determinant across ethnicities. Several other genes, including PTPN22 and PADI4, show modest association with RA. However, they cover only a part of its genetic components and their relative contribution is different between populations. To identify novel genetic determinants, we took a candidate gene approach in a trans-ethnic manner. After critical selection of 169 genes based on their immunological function, we performed SNP discovery of these genes by the resequencing of exons and surrounding areas using European and Japanese DNAs. We then generated a panel of 1,509 SNPs for case-control association study in both populations. The DerSimonian-Laird test for meta-analysis, using the combined results of the two populations, identified rs7551957 at the 5'-flanking region of the low-affinity Fc-gamma receptor IIa (FCGR2A) gene as the strongest candidate for the association (p = 8.6 x 10(-5), odds ratio = 1.58 with 95%CI 1.25-1.99). Suggestive signals were also obtained for three SNPs in the dihydropyrimidine dehydrogenase (DPYD) gene (rs6685859; p = 1.3 x 10(-4), rs7550959; p = 1.5 x 10(-4) and rs7531138; p = 1.7 x 10(-4)) and an intronic SNP, rs2269310, of the erythrocytic spectrin beta (SPTB) gene (p = 7.9 x 10(-4)).

引用

页码：52 / 58

页数：7

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