Letter abstract


Nature Genetics 41, 1234 - 1237 (2009)
Published online: 18 October 2009 | Corrected online: 4 December 2009 | doi:10.1038/ng.472

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

Jian-Wen Han1,2,18, Hou-Feng Zheng1,2,18, Yong Cui1,2,18, Liang-Dan Sun1,2, Dong-Qing Ye1,2, Zhi Hu1,2, Jin-Hua Xu3, Zhi-Ming Cai4, Wei Huang5, Guo-Ping Zhao5, Hong-Fu Xie6, Hong Fang7, Qian-Jin Lu8, Jian-Hua Xu9, Xiang-Pei Li10, Yun-Feng Pan11, Dan-Qi Deng12, Fan-Qin Zeng13, Zhi-Zhong Ye14, Xiao-Yan Zhang15, Qing-Wen Wang4, Fei Hao16, Li Ma15, Xian-Bo Zuo1,2, Fu-Sheng Zhou1,2, Wen-Hui Du1,2, Yi-Lin Cheng1,2, Jian-Qiang Yang1,2, Song-Ke Shen1,2, Jian Li1,2, Yu-Jun Sheng1,2, Xiao-Xia Zuo6, Wei-Fang Zhu7, Fei Gao8, Pei-Lian Zhang12, Qing Guo13, Bo Li14, Min Gao1,2, Feng-Li Xiao1,2, Cheng Quan1,2, Chi Zhang1,2, Zheng Zhang1,2, Kun-Ju Zhu1,2, Yang Li1,2, Da-Yan Hu1,2, Wen-Sheng Lu1,2, Jian-Lin Huang11, Sheng-Xiu Liu1,2, Hui Li1,2, Yun-Qing Ren1,2, Zai-Xing Wang1,2, Chun-Jun Yang1,2, Pei-Guang Wang1,2, Wen-Ming Zhou1,2, Yong-Mei Lv1,2, An-Ping Zhang1,2, Sheng-Quan Zhang1,2, Da Lin1,2, Yi Li17, Hui Qi Low17, Min Shen5, Zhi-Fang Zhai16, Ying Wang5, Feng-Yu Zhang1,2, Sen Yang1,2, Jian-Jun Liu1,2,17 & Xue-Jun Zhang1,2,3


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 times 10-25 less than or equal to Pcombined less than or equal to 2.77 times 10-8) and confirmed seven previously reported loci (BLK, IRF5, STAT4, TNFAIP3, TNFSF4, 6q21 and 22q11.21; 5.17 times 10-42 less than or equal to Pcombined less than or equal to 5.18 times 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.

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  1. Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University, Hefei, Anhui, China.
  2. Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, China.
  3. Department of Dermatology, Huashan Hospital of Fudan University, Shanghai, China.
  4. Department of Rheumatology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, China.
  5. Chinese National Human Genome Center at Shanghai, Shanghai, China.
  6. Department of Dermatology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
  7. Department of Dermatology, First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
  8. Department of Dermatology, Epigenetic Research Center, Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
  9. Department of Rheumatology at NO. 1 Hospital, Anhui Medical University, Hefei, Anhui, China.
  10. Department of Rheumatology, Affiliated Provincial Hospital of Anhui Medical University, Hefei, Anhui, China.
  11. Department of Rheumatology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
  12. Department of Dermatology, The Second Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, China.
  13. Department of Dermatology, The Second Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong, China.
  14. Department of Rheumatology, Shenzhen Fourth People's Hospital, Shenzhen, Guangdong, China.
  15. Department of Dermatology, China-Japan Friendship Hospital, Beijing, China.
  16. Department of Dermatology, Southwest Hospital, Third Military Medical University, Chongqing, China.
  17. Human Genetics, Genome Institute of Singapore, Singapore, Singapore.
  18. These authors contributed equally to this work.

Correspondence to: Xue-Jun Zhang1,2,3 e-mail: ayzxj@vip.sina.com

Correspondence to: Sen Yang1,2 e-mail: yangsen@medmail.com.cn

* In the version of this article initially published, there were two errors in the author affiliations and corresponding author details. Jian-Jun Liu is also affiliated with footnote 17, and Sen Yang and Xue-Jun Zhang are the corresponding authors. These errors have been corrected in the HTML and PDF versions of the article.