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

• Published in: Nature genetics Vol. 41; no. 11; pp. 1234 - 1237
• Main Authors: Li, Xiang-Pei, Zhang, Zheng, Lu, Qian-Jin, Zhang, Xue-Jun, Zhang, Xiao-Yan, Shen, Song-Ke, Cheng, Yi-Lin, Zhao, Guo-Ping, Lin, Da, Han, Jian-Wen, Li, Jian, Zuo, Xiao-Xia, Shen, Min, Ye, Zhi-Zhong, Wang, Ying, Li, Yi, Liu, Sheng-Xiu, Wang, Qing-Wen, Zhu, Kun-Ju, Zhang, Feng-Yu, Fang, Hong, Yang, Sen, Zhang, Chi, Guo, Qing, Gao, Min, Hu, Da-Yan, Zhou, Fu-Sheng, Sheng, Yu-Jun, Huang, Jian-Lin, Xu, Jian-Hua, Lu, Wen-Sheng, Zhang, An-Ping, Zhai, Zhi-Fang, Ma, Li, Xiao, Feng-Li, Lv, Yong-Mei, Cui, Yong, Zheng, Hou-Feng, Zuo, Xian-Bo, Li, Bo, Xie, Hong-Fu, Li, Yang, Sun, Liang-Dan, Deng, Dan-Qi, Ren, Yun-Qing, Wang, Zai-Xing, Li, Hui, Ye, Dong-Qing, Zhou, Wen-Ming, Zeng, Fan-Qin, Zhang, Sheng-Quan, Cai, Zhi-Ming, Wang, Pei-Guang, Yang, Jian-Qiang, Low, Hui Qi, Yang, Chun-Jun, Liu, Jian-Jun, Pan, Yun-Feng, Zhang, Pei-Lian, Du, Wen-Hui, Zhu, Wei-Fang, Gao, Fei, Xu, Jin-Hua, Quan, Cheng, Huang, Wei, Hu, Zhi, Hao, Fei
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.11.2009; Nature Publishing Group
• Subjects: Agriculture; Animal Genetics and Genomics; Asian Continental Ancestry Group - genetics; Autoimmune diseases; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Disease susceptibility; Female; Fundamental and applied biological sciences. Psychology; Gene Function; Genes; Genetic aspects; Genetic Predisposition to Disease; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genome-Wide Association Study; Heterogeneity; Human Genetics; Humans; letter; Lupus Erythematosus, Systemic - genetics; Male; Medical sciences; Risk factors; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Single nucleotide polymorphisms; Studies; Systemic lupus erythematosus; China; Immunopathology; Connective tissue disease; Skin disease; Systemic lupus erythematosus; Systemic disease; Autoimmune disease; Chinese; Identification; Locus
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng.472

Xuejun Zhang and colleagues report results of a genome-wide association study of systemic lupus erythematosus (SLE) in a Chinese Han population. Their work identifies nine new SLE susceptibility loci and reveals overlap in the spectrum of risk alleles shared between Chinese Han and European populations. 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 × 10 −25 ≤ P combined ≤ 2.77 × 10 −8 ) and confirmed seven previously reported loci ( BLK , IRF5 , STAT4 , TNFAIP3 , TNFSF4 , 6q21 and 22q11.21; 5.17 × 10 −42 ≤ P combined ≤ 5.18 × 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.