Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.

Systemic lupus erythematosus (SLE; OMIM 1 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.

系统性红斑狼疮（SLE；OMIM 1152700）是一种遗传复杂的自身免疫性疾病。全基因组关联研究（GWAS）已经在单一血统中确定了50多个与该疾病显著相关的基因位点，但尚未进行全基因组跨血统研究。我们整合了来自中国（1659例病例和3398例对照）和欧洲（4036例病例和6959例对照）人群的三个GWAS数据集。对这些研究的荟萃分析表明，已发表的SLE遗传关联中有超过一半在两个人群中都存在。在中国（3043例病例和5074例对照）和欧洲（2643例病例和9032例对照）受试者中进行的一项验证研究发现了10个先前未报道的SLE基因位点。我们的研究进一步证明，SLE的大多数遗传风险多态性在两个人群的相同区域内都存在。此外，对风险等位基因频率和遗传风险评分的比较表明，非欧洲人（包括亚洲人）中SLE患病率的增加具有遗传基础。