Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population
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DOI：
10.1038/ng.2231
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发表时间：
2012-05-01
期刊：
影响因子：
30.8
通讯作者：
Yamamoto, Kazuhiko
中科院分区：
文献类型：
--
作者：
Okada, Yukinori;Terao, Chikashi;Yamamoto, Kazuhiko
类风湿性关节炎是一种以慢性炎症为特征的常见自身免疫性疾病。我们报道了一项对日本人群全基因组关联研究的荟萃分析，其中包括4,074名类风湿性关节炎患者(病例)和16,891名对照，随后在5,277例类风湿关节炎病例和21,684名对照中进行重复。我们的研究在P<；5.0x10(-8)的阈值下发现了9个新的与类风湿关节炎相关的基因座，包括B3GNT2、ANXA3、CSF2、CD83、NFKBIE、ARID5B、PDE2A-ARAP1、PLD4和PTPN2。AXA3与系统性红斑狼疮易感性相关(P=0.0040)，B3GNT2和ARID5B与Graves病相关(P=3.5x10(-4)和2.9x10(-4))。我们对欧洲血统的个体(5,539例类风湿性关节炎病例和20,169名对照)进行了与先前荟萃分析的多祖先比较分析。这为类风湿性关节炎在人群中的共同遗传风险提供了证据。
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.