Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus

被引:809
作者
Han, Jian-Wen [1 ,2 ,3 ]
Zheng, Hou-Feng [1 ,2 ,3 ]
Cui, Yong [1 ,2 ,3 ]
Sun, Liang-Dan [1 ,2 ,3 ]
Ye, Dong-Qing [1 ,2 ,3 ]
Hu, Zhi [1 ,2 ,3 ]
Xu, Jin-Hua [4 ]
Cai, Zhi-Ming [5 ]
Huang, Wei [6 ]
Zhao, Guo-Ping [6 ]
Xie, Hong-Fu [7 ]
Fang, Hong [8 ]
Lu, Qian-Jin [9 ]
Xu, Jian-Hua [10 ]
Li, Xiang-Pei [11 ]
Pan, Yun-Feng [12 ]
Deng, Dan-Qi [13 ]
Zeng, Fan-Qin [14 ]
Ye, Zhi-Zhong [15 ]
Zhang, Xiao-Yan [16 ]
Wang, Qing-Wen [5 ]
Hao, Fei [17 ]
Ma, Li [16 ]
Zuo, Xian-Bo [1 ,2 ,3 ]
Zhou, Fu-Sheng [1 ,2 ,3 ]
Du, Wen-Hui [1 ,2 ,3 ]
Cheng, Yi-Lin [1 ,2 ,3 ]
Yang, Jian-Qiang [1 ,2 ,3 ]
Shen, Song-Ke [1 ,2 ,3 ]
Li, Jian [1 ,2 ,3 ]
Sheng, Yu-Jun [1 ,2 ,3 ]
Zuo, Xiao-Xia [7 ]
Zhu, Wei-Fang [8 ]
Gao, Fei [9 ]
Zhang, Pei-Lian [13 ]
Guo, Qing [14 ]
Li, Bo [15 ]
Gao, Min [1 ,2 ,3 ]
Xiao, Feng-Li [1 ,2 ,3 ]
Quan, Cheng [1 ,2 ,3 ]
Zhang, Chi [1 ,2 ,3 ]
Zhang, Zheng [1 ,2 ,3 ]
Zhu, Kun-Ju [1 ,2 ,3 ]
Li, Yang [1 ,2 ,3 ]
Hu, Da-Yan [1 ,2 ,3 ]
Lu, Wen-Sheng [1 ,2 ,3 ]
Huang, Jian-Lin [12 ]
Liu, Sheng-Xiu [1 ,2 ,3 ]
Li, Hui [1 ,2 ,3 ]
Ren, Yun-Qing [1 ,2 ,3 ]
机构
[1] Anhui Med Univ, Hosp 1, Inst Dermatol, Hefei, Anhui, Peoples R China
[2] Anhui Med Univ, Hosp 1, Dept Dermatol, Hefei, Anhui, Peoples R China
[3] Anhui Med Univ, Minist Educ, Key Lab Dermatol, Hefei, Anhui, Peoples R China
[4] Fudan Univ, Huashan Hosp, Dept Dermatol, Shanghai 200433, Peoples R China
[5] Peking Univ, Shenzhen Hosp, Dept Rheumatol, Shenzhen, Guangdong, Peoples R China
[6] Chinese Natl Human Genome Ctr Shanghai, Shanghai, Peoples R China
[7] Cent S Univ, Xiangya Hosp, Dept Dermatol, Changsha, Hunan, Peoples R China
[8] Zhejiang Univ, Dept Dermatol, Affiliated Hosp 1, Coll Med, Hangzhou 310003, Zhejiang, Peoples R China
[9] Cent S Univ, Epigenet Res Ctr, Dept Dermatol, Xiangya Hosp 2, Changsha, Hunan, Peoples R China
[10] Anhui Med Univ, Dept Rheumatol, Hosp 1, Hefei, Anhui, Peoples R China
[11] Anhui Med Univ, Dept Rheumatol, Affiliated Prov Hosp, Hefei, Anhui, Peoples R China
[12] Sun Yat Sen Univ, Affiliated Hosp 3, Dept Rheumatol, Guangzhou 510275, Guangdong, Peoples R China
[13] Kunming Med Univ, Affiliated Hosp 2, Dept Dermatol, Kunming, Yunnan, Peoples R China
[14] Sun Yat Sen Univ, Dept Dermatol, Affiliated Hosp 2, Guangzhou 510275, Guangdong, Peoples R China
[15] Shenzhen Fourth Peoples Hosp, Dept Rheumatol, Shenzhen, Guangdong, Peoples R China
[16] China Japan Friendship Hosp, Dept Dermatol, Beijing, Peoples R China
[17] Third Mil Med Univ, Southwest Hosp, Dept Dermatol, Chongqing, Peoples R China
[18] Genome Inst Singapore, Singapore, Singapore
关键词
GENE; VARIANTS; ITGAM; EPIDEMIOLOGY; EXPRESSION; PSORIASIS; SCAN; SLE; PXK;
D O I
10.1038/ng.472
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We performed a genome-wide association study (GWAS) of systemic lupus erythematosus (SLE) in a Chinese Han population by genotyping 1,047 cases and 1,205 controls using Illumina Human610-Quad BeadChips and replicating 78 SNPs in two additional cohorts (3,152 cases and 7,050 controls). We identified nine new susceptibility loci (ETS1, IKZF1, RASGRP3, SLC15A4, TNIP1, 7q11.23, 10q11.22, 11q23.3 and 16p11.2; 1.77 x 10(-25) <= P-combined <= 2.77 x 10(-8)) and confirmed seven previously reported loci (BLK, IRF5, STAT4, TNFAIP3, TNFSF4, 6q21 and 22q11.21; 5.17 x 10(-42) <= P-combined <= 5.18 x 10(-12)). Comparison with previous GWAS findings highlighted the genetic heterogeneity of SLE susceptibility between Chinese Han and European populations. This study not only advances our understanding of the genetic basis of SLE but also highlights the value of performing GWAS in diverse ancestral populations.
引用
收藏
页码:1234 / U98
页数:5
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