genome-wide association meta-analysis in chinese and european individuals identifies ten new loci associated with systemic lupus erythematosus
2016 aug;48(8):940-6. doi: 10.1038/ng.3603. epub 2016 jul 11.
systemic lupus erythematosus (sle; omim 152700) is a genetically complex autoimmune disease. genome-wide association studies (gwass) have identified more than 50 loci as robustly associated with the disease in single ancestries, but genome-wide transancestral studies have not been conducted. we combined three gwas data sets from chinese (1,659 cases and 3,398 controls) and european (4,036 cases and 6,959 controls) populations. a meta-analysis of these studies showed that over half of the published sle genetic associations are present in both populations. a replication study in chinese (3,043 cases and 5,074 controls) and european (2,643 cases and 9,032 controls) subjects found ten previously unreported sle loci. our study provides further evidence that the majority of genetic risk polymorphisms for sle are contained within the same regions across both populations. furthermore, a comparison of risk allele frequencies and genetic risk scores suggested that the increased prevalence of sle in non-europeans (including asians) has a genetic basis.