title: Association analyses confirm five susceptibility loci for systemic lupus erythematosus in the Han Chinese population.
abstract: BACKGROUND
  Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease. Currently, numerous genetic loci of SLE have been confirmed. Here we try to further explore additional genes contributing to SLE susceptibility in this study.
  
  
  METHODS
  Forty nine single nucleotide polymorphisms (SNPs) with moderate-risk for SLE in previous study were genotyped in a large-scale replication study with a total of 3,522 cases and 8,252 controls using the Sequenom Massarray system. Association analyses were performed using logistic regression with gender or sample cohorts as a covariate through PLINK 1.07 software.
  
  
  RESULTS
  This replication effort confirmed five reported SLE susceptibility loci reaching genome-wide levels of significance (P(meta) <5.00 × 10(-08)): TNFSF4 (rs1418190, odds ratio (OR) = 0.81, P(meta) = 1.08 × 10(-08); rs4916219, OR = 0.80, P(meta )= 7.77 × 10(-09)), IRF8 (rs2934498, OR = 1.25, P(meta) = 4.97 × 10(-09)), miR-146a (rs2431697, OR = 0.69, P(meta) = 1.15 × 10(-22)), CD44 (rs2732547, OR = 0.82, P(meta) = 1.55 × 10(-11)), and TMEM39A (rs12494314, OR = 0.84, P(meta) = 1.01 × 10(-09)). Further logistic regression analysis indicated that the genetic effects within TNFSF4 detected in this study are independent from our previously reported signals.
  
  
  CONCLUSIONS
  This study increases the number of established susceptibility loci for SLE in Han Chinese population and highlights the contribution of multiple variants of modest effect. Although further studies will be required to identify the causal alleles within these loci, the findings make a significant step forward in our understanding of the genetic contribution to SLE in Chinese population.
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. ahmusyj@163.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. ahmusyj@163.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. ahmusyj@163.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. ahmusyj@163.com.
authors.forename: Yu-jun
authors.initials: YJ
authors.lastname: Sheng
authors.affiliation: Department of Rheumatology and Immunology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, 230032, China. xujianhua@sina.com.
authors.forename: Jian-hua
authors.initials: JH
authors.lastname: Xu
authors.affiliation: Department of Nephrology, No.1 Hospital, Anhui Medical University, Hefei, Anhui, 230032, China. wuyonggui1966@163.com.
authors.forename: Yong-gui
authors.initials: YG
authors.lastname: Wu
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. 28080806@qq.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. 28080806@qq.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. 28080806@qq.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. 28080806@qq.com.
authors.forename: Xian-bo
authors.initials: XB
authors.lastname: Zuo
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. 591671350@qq.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. 591671350@qq.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. 591671350@qq.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. 591671350@qq.com.
authors.forename: Jin-ping
authors.initials: JP
authors.lastname: Gao
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. 272599265@qq.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. 272599265@qq.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. 272599265@qq.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. 272599265@qq.com.
authors.forename: Yan
authors.initials: Y
authors.lastname: Lin
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. 631183574@qq.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. 631183574@qq.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. 631183574@qq.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. 631183574@qq.com.
authors.forename: Zheng-wei
authors.initials: ZW
authors.lastname: Zhu
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. 361702267@qq.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. 361702267@qq.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. 361702267@qq.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. 361702267@qq.com.
authors.forename: Lei-lei
authors.initials: LL
authors.lastname: Wen
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. 634713953@qq.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. 634713953@qq.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. 634713953@qq.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. 634713953@qq.com.
authors.forename: Chao
authors.initials: C
authors.lastname: Yang
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. 501335910@qq.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. 501335910@qq.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. 501335910@qq.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. 501335910@qq.com.
authors.forename: Lu
authors.initials: L
authors.lastname: Liu
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. 1552964678@qq.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. 1552964678@qq.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. 1552964678@qq.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. 1552964678@qq.com.
authors.forename: Yu-yan
authors.initials: YY
authors.lastname: Cheng
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. 458210265@qq.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. 458210265@qq.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. 458210265@qq.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. 458210265@qq.com.
authors.forename: Yan
authors.initials: Y
authors.lastname: Chang
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. 892319580@qq.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. 892319580@qq.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. 892319580@qq.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. 892319580@qq.com.
authors.forename: Lu-lu
authors.initials: LL
authors.lastname: Yang
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. biozhoufs@163.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. biozhoufs@163.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. biozhoufs@163.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. biozhoufs@163.com.
authors.forename: Fu-sheng
authors.initials: FS
authors.lastname: Zhou
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. xianfatang@hotmail.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. xianfatang@hotmail.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. xianfatang@hotmail.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. xianfatang@hotmail.com.
authors.forename: Xian-fa
authors.initials: XF
authors.lastname: Tang
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. zhengxiaodong.1234@163.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. zhengxiaodong.1234@163.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. zhengxiaodong.1234@163.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. zhengxiaodong.1234@163.com.
authors.forename: Xiao-dong
authors.initials: XD
authors.lastname: Zheng
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. yinxianyong1746@163.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. yinxianyong1746@163.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. yinxianyong1746@163.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. yinxianyong1746@163.com.
authors.forename: Xian-yong
authors.initials: XY
authors.lastname: Yin
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. tanghuayang@hotmail.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. tanghuayang@hotmail.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. tanghuayang@hotmail.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. tanghuayang@hotmail.com.
authors.forename: Hua-yang
authors.initials: HY
authors.lastname: Tang
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. ahmusld@163.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. ahmusld@163.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. ahmusld@163.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. ahmusld@163.com.
authors.forename: Liang-dan
authors.initials: LD
authors.lastname: Sun
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. wuhucuiyong@vip.163.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. wuhucuiyong@vip.163.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. wuhucuiyong@vip.163.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. wuhucuiyong@vip.163.com.|Department of Dermatology, China-Japan Friendship Hospital, Beijing, 100029, China. wuhucuiyong@vip.163.com.
authors.forename: Yong
authors.initials: Y
authors.lastname: Cui
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. yangsen@medmail.com.cn.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. yangsen@medmail.com.cn.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. yangsen@medmail.com.cn.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. yangsen@medmail.com.cn.
authors.forename: Sen
authors.initials: S
authors.lastname: Yang
authors.affiliation: Institute of Dermatology and Department of Dermatology, No.1 Hospital, Anhui Medical University, 81 Meishan Road, Hefei, Anhui, 230032, China. ayzxj@vip.sina.com.|Key Laboratory of Dermatology, Anhui Medical University, Ministry of Education, China, Hefei, Anhui, 230032, China. ayzxj@vip.sina.com.|State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, Anhui, 230032, China. ayzxj@vip.sina.com.|Collaborative Innovation Center for Complex and Severe Dermatosis, Anhui Medical University, Hefei, Anhui, 230032, China. ayzxj@vip.sina.com.
authors.forename: Xue-jun
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D056426:Genetic Loci / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods*; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D055815:Young Adult