Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.
Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.
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中国和欧洲个体的全基因组关联荟萃分析确定了与系统性红斑狼疮相关的十个新位点
DOI：
10.1038/ng.3603
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发表时间：
2016-08
期刊：
影响因子：
30.8
通讯作者：
Vyse TJ
中科院分区：
文献类型：
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作者：
Morris DL;Sheng Y;Zhang Y;Wang YF;Zhu Z;Tombleson P;Chen L;Cunninghame Graham DS;Bentham J;Roberts AL;Chen R;Zuo X;Wang T;Wen L;Yang C;Liu L;Yang L;Li F;Huang Y;Yin X;Yang S;Rönnblom L;Fürnrohr BG;Voll RE;Schett G;Costedoat-Chalumeau N;Gaffney PM;Lau YL;Zhang X;Yang W;Cui Y;Vyse TJ
系统性红斑狼疮（SLE; OMIM 152700）是一种遗传复杂的自身免疫性疾病。全基因组关联研究（GWAS）已经确定了50多个基因座与单一祖先的疾病密切相关，但尚未进行全基因组跨祖先研究。我们结合了来自中国（1，659例病例和3，398例对照）和欧洲（4，036例病例和6，959例对照）人群的三个GWAS数据集。这些研究的荟萃分析显示，超过一半的已发表的SLE遗传相关性存在于两个人群中。一项在中国（3,043例和5,074例对照）和欧洲（2,643例和9,032例对照）受试者中进行的重复研究发现了10个以前未报告的SLE位点。我们的研究提供了进一步的证据表明，大多数SLE的遗传风险多态性包含在两个人群的相同区域内。此外，风险等位基因频率和遗传风险评分的比较表明，SLE在非欧洲人（包括亚洲人）中的患病率增加具有遗传基础。
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.