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

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 populati...

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Published inNature 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
LanguageEnglish
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
Online AccessGet full text

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Abstract 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.
AbstractList 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.sup.-25] ≤ [P.sub.combined] ≤ 2.77 x [10.sup.-8]) and confirmed seven previously reported loci (BLK, IRF5, STAT4, TNFAIP3, TNFSF4, 6q21 and 22q11.21; 5.17 x [10.sup.-42] ≤ [P.sub.combined] ≤ 5.18 x [10.sup.-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.
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^sup -25^ ≤ P^sub combined^ ≤ 2.77 × 10^sup -8^) and confirmed seven previously reported loci (BLK, IRF5, STAT4, TNFAIP3, TNFSF4, 6q21 and 22q11.21; 5.17 × 10^sup -42^ ≤ P^sub combined^ ≤ 5.18 × 10^sup -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. [PUBLICATION ABSTRACT]
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 super(-25) , P sub(combined) , 2.77 10 super(-8)) and confirmed seven previously reported loci (BLK, IRF5, STAT4, TNFAIP3, TNFSF4, 6q21 and 22q11.21; 5.17 10 super(-42) , P sub(combined) , 5.18 10 super(-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.
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) < or = P(combined) < or = 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) < or = P(combined) < or = 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.
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.
Audience Academic
Author Yang, Chun-Jun
Zheng, Hou-Feng
Zhai, Zhi-Fang
Fang, Hong
Wang, Ying
Ren, Yun-Qing
Wang, Zai-Xing
Shen, Min
Zhu, Kun-Ju
Wang, Pei-Guang
Zhang, Xue-Jun
Zhang, Zheng
Cai, Zhi-Ming
Wang, Qing-Wen
Ma, Li
Zhou, Wen-Ming
Lv, Yong-Mei
Lu, Wen-Sheng
Ye, Dong-Qing
Quan, Cheng
Zuo, Xian-Bo
Low, Hui Qi
Han, Jian-Wen
Lu, Qian-Jin
Shen, Song-Ke
Lin, Da
Liu, Sheng-Xiu
Deng, Dan-Qi
Zuo, Xiao-Xia
Zhang, Sheng-Quan
Hao, Fei
Huang, Wei
Hu, Zhi
Gao, Min
Zhao, Guo-Ping
Du, Wen-Hui
Pan, Yun-Feng
Xiao, Feng-Li
Li, Xiang-Pei
Li, Yi
Yang, Sen
Zhang, Xiao-Yan
Yang, Jian-Qiang
Ye, Zhi-Zhong
Zhu, Wei-Fang
Zhang, An-Ping
Xu, Jian-Hua
Zhou, Fu-Sheng
Sheng, Yu-Jun
Zhang, Chi
Zhang, Feng-Yu
Sun, Liang-Dan
Zeng, Fan-Qin
Huang, Jian-Lin
Li, Jian
Zhang, Pei-Lian
Hu, Da-Yan
Li, Hui
Liu, Jian-Jun
Guo, Qing
Xu, Jin-Hua
Li, Bo
Gao, Fei
Cui, Yong
Li, Yang
Xie, Hong-Fu
Cheng, Yi-Lin
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  organization: Department of Rheumatology, Affiliated Provincial Hospital of Anhui Medical University
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  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Qian-Jin
  surname: Lu
  fullname: Lu, Qian-Jin
  organization: Department of Dermatology, Epigenetic Research Center, Second Xiangya Hospital, Central South University
– givenname: Xue-Jun
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  fullname: Zhang, Xue-Jun
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education Department of Dermatology, Huashan Hospital of Fudan University
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  organization: Department of Dermatology, China-Japan Friendship Hospital
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  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
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  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
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  surname: Zhao
  fullname: Zhao, Guo-Ping
  organization: Chinese National Human Genome Center at Shanghai
– givenname: Da
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  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
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  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
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  surname: Li
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  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
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– givenname: Qing-Wen
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  organization: Department of Rheumatology, Peking University Shenzhen Hospital
– givenname: Kun-Ju
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  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Feng-Yu
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– givenname: Hong
  surname: Fang
  fullname: Fang, Hong
  organization: Department of Dermatology, First Affiliated Hospital, College of Medicine, Zhejiang University
– givenname: Sen
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  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
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– givenname: Min
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  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Da-Yan
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  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
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  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
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  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Bo
  surname: Li
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  organization: Department of Rheumatology, Shenzhen Fourth People's Hospital
– givenname: Hong-Fu
  surname: Xie
  fullname: Xie, Hong-Fu
  organization: Department of Dermatology, Xiangya Hospital, Central South University
– givenname: Yang
  surname: Li
  fullname: Li, Yang
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Liang-Dan
  surname: Sun
  fullname: Sun, Liang-Dan
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Dan-Qi
  surname: Deng
  fullname: Deng, Dan-Qi
  organization: Department of Dermatology, The Second Affiliated Hospital of Kunming Medical University
– givenname: Yun-Qing
  surname: Ren
  fullname: Ren, Yun-Qing
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Zai-Xing
  surname: Wang
  fullname: Wang, Zai-Xing
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Hui
  surname: Li
  fullname: Li, Hui
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Dong-Qing
  surname: Ye
  fullname: Ye, Dong-Qing
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Wen-Ming
  surname: Zhou
  fullname: Zhou, Wen-Ming
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Fan-Qin
  surname: Zeng
  fullname: Zeng, Fan-Qin
  organization: Department of Dermatology, The Second Affiliated Hospital of Sun Yat-sen University
– givenname: Sheng-Quan
  surname: Zhang
  fullname: Zhang, Sheng-Quan
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Zhi-Ming
  surname: Cai
  fullname: Cai, Zhi-Ming
  organization: Department of Rheumatology, Peking University Shenzhen Hospital
– givenname: Pei-Guang
  surname: Wang
  fullname: Wang, Pei-Guang
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Jian-Qiang
  surname: Yang
  fullname: Yang, Jian-Qiang
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Hui Qi
  surname: Low
  fullname: Low, Hui Qi
  organization: Human Genetics, Genome Institute of Singapore
– givenname: Chun-Jun
  surname: Yang
  fullname: Yang, Chun-Jun
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Jian-Jun
  surname: Liu
  fullname: Liu, Jian-Jun
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education Human Genetics, Genome Institute of Singapore
– givenname: Yun-Feng
  surname: Pan
  fullname: Pan, Yun-Feng
  organization: Department of Rheumatology, The Third Affiliated Hospital of Sun Yat-sen University
– givenname: Pei-Lian
  surname: Zhang
  fullname: Zhang, Pei-Lian
  organization: Department of Dermatology, The Second Affiliated Hospital of Kunming Medical University
– givenname: Wen-Hui
  surname: Du
  fullname: Du, Wen-Hui
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Wei-Fang
  surname: Zhu
  fullname: Zhu, Wei-Fang
  organization: Department of Dermatology, First Affiliated Hospital, College of Medicine, Zhejiang University
– givenname: Fei
  surname: Gao
  fullname: Gao, Fei
  organization: Department of Dermatology, Epigenetic Research Center, Second Xiangya Hospital, Central South University
– givenname: Jin-Hua
  surname: Xu
  fullname: Xu, Jin-Hua
  organization: Department of Dermatology, Huashan Hospital of Fudan University
– givenname: Cheng
  surname: Quan
  fullname: Quan, Cheng
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Wei
  surname: Huang
  fullname: Huang, Wei
  organization: Chinese National Human Genome Center at Shanghai
– givenname: Zhi
  surname: Hu
  fullname: Hu, Zhi
  organization: Institute of Dermatology and Department of Dermatology at NO. 1 Hospital, Anhui Medical University Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education
– givenname: Fei
  surname: Hao
  fullname: Hao, Fei
  organization: Department of Dermatology, Southwest Hospital, Third Military Medical University
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IsPeerReviewed true
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Issue 11
Keywords Immunopathology
Connective tissue disease
Skin disease
Systemic lupus erythematosus
Systemic disease
Autoimmune disease
Chinese
Identification
Locus
Language English
License CC BY 4.0
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Snippet Xuejun Zhang and colleagues report results of a genome-wide association study of systemic lupus erythematosus (SLE) in a Chinese Han population. Their work...
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...
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StartPage 1234
SubjectTerms 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
Title Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus
URI http://dx.doi.org/10.1038/ng.472
https://link.springer.com/article/10.1038/ng.472
https://www.ncbi.nlm.nih.gov/pubmed/19838193
https://www.proquest.com/docview/222651978
https://search.proquest.com/docview/21214332
https://search.proquest.com/docview/734105490
Volume 41
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