单位：[1]Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 21 Sassoon Road, Sandy Bay, Hong Kong[2]Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangdong, China[3]Division of Genetics and Molecular Medicine, King’s College London, London SE1 9RT, UK[4]Lupus Research Unit, Department of Microbiology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand[5]Key Laboratory of Dermatology, Ministry of Education, Anhui Medical University, Hefei, Anhui, China[6]Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei, Anhui, China[7]Department of Dermatology, China-Japan Friendship Hospital, Beijing, China[8]Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Sandy Bay, Hong Kong.
Background: Systemic lupus erythematous (SLE) is a complex autoimmune disease with female predominance, particularly affecting those of childbearing age. We performed analysis of three genome-wide genotyping datasets of populations of both Chinese and European origin. Methods: This study involved 5695 cases and 10,357 controls in the discovery stage. The lead signal on chromosome X was followed by replication in three additional Asian cohorts, with 2300 cases and 4244 controls in total. Conditional analysis of the known associated loci on chromosome X was also performed to further explore independent signals. Results: Single-nucleotide polymorphism rs13440883 in GPR173 was found to be significantly associated with SLE (P-meta = 7.53 x 10(-9), ORmeta = 1.16), whereas conditional analysis provided evidence of a potential independent signal in the L1CAM-IRAK1-MECP2 region in Asian populations (rs5987175 [LCA10]). Conclusions: We identified a novel SLE susceptibility locus on the X chromosome. This finding emphasizes the importance of the X chromosome in disease pathogenesis and highlights the role of sex chromosomes in the female bias of SLE.
基金：
Hong Kong Health and Medical Research Fund (HMRF) [12133701]; Research Grants Council of the Hong Kong GovernmentHong Kong Research Grants Council [GRF 17146616, GRF 17125114]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81601423]
第一作者单位：[1]Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 21 Sassoon Road, Sandy Bay, Hong Kong
共同第一作者：
通讯作者：
通讯机构：[1]Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 21 Sassoon Road, Sandy Bay, Hong Kong[8]Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Sandy Bay, Hong Kong.
推荐引用方式(GB/T 7714)：
Zhang Huoru,Zhang Yan,Wang Yong-Fei,et al.Meta-analysis of GWAS on both Chinese and European populations identifies GPR173 as a novel X chromosome susceptibility gene for SLE[J].ARTHRITIS RESEARCH & THERAPY.2018,20:doi:10.1186/s13075-018-1590-3.
APA：
Zhang, Huoru,Zhang, Yan,Wang, Yong-Fei,Morris, David,Hirankarn, Nattiya...&Yang, Wanling.(2018).Meta-analysis of GWAS on both Chinese and European populations identifies GPR173 as a novel X chromosome susceptibility gene for SLE.ARTHRITIS RESEARCH & THERAPY,20,
MLA：
Zhang, Huoru,et al."Meta-analysis of GWAS on both Chinese and European populations identifies GPR173 as a novel X chromosome susceptibility gene for SLE".ARTHRITIS RESEARCH & THERAPY 20.(2018)
医学