Ontology highlight
ABSTRACT: 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 (Pmeta = 7.53 × 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.
SUBMITTER: Zhang H
PROVIDER: S-EPMC5934841 | biostudies-literature | 2018 May
REPOSITORIES: biostudies-literature
Zhang Huoru H Zhang Yan Y Wang Yong-Fei YF Morris David D Hirankarn Nattiya N Sheng Yujun Y Shen Jiangshan J Pan Hai-Feng HF Yang Jing J Yang Sen S Cui Yong Y Ye Dong-Qing DQ Vyse Timothy J TJ Zhang Xuejun X Lau Yu Lung YL Yang Wanling W
Arthritis research & therapy 20180503 1
<h4>Background</h4>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.<h4>Methods</h4>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 to ...[more]