Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus
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中国汉族人群的全基因组关联研究确定了系统性红斑狼疮的九个新易感位点
DOI：
10.1038/ng.472
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发表时间：
2009-11-01
期刊：
影响因子：
30.8
通讯作者：
Zhang, Xue-Jun
中科院分区：
文献类型：
--
作者：
Han, Jian-Wen;Zheng, Hou-Feng;Zhang, Xue-Jun
我们利用Illumina Human 610-Quad BeadChips对1,047例系统性红斑狼疮(SLE)患者和1,205名对照进行了全基因组关联研究，并在另外两个队列(3,152例和7,050名对照)中复制了78个SNP。我们发现了9个新的易感基因座(ETS1、IKZF1、RASGRP3、SLC15A4、TnIP1、7q11.23、10q11.22、11q23.3和16p11.2；1.77×10−25≤P组合≤2.77×10−8)，并确认了7个新的易感基因座(BLK、IRF5、STAT4、TNFAIP3、TNFSF4、6q21和22q11.21；5.17×10−42≤P组合≤5.18×10−12)。与以前的GWAS研究结果相比，强调了中国汉族和欧洲人群之间SLE易感性的遗传异质性。这项研究不仅促进了我们对SLE遗传基础的理解，而且突出了在不同祖先群体中进行GWA的价值。
We performed a genome-wide association study (GWAS) of systemic lupus erythematosus (SLE) in a Chinese Han population by genotyping 1,047 cases and 1,205 controls using Illumina Human610-Quad BeadChips and replicating 78 SNPs in two additional cohorts (3,152 cases and 7,050 controls). We identified nine new susceptibility loci (ETS1,IKZF1,RASGRP3,SLC15A4,TNIP1, 7q11.23, 10q11.22, 11q23.3 and 16p11.2; 1.77 × 10−25≤Pcombined≤ 2.77 × 10−8) and confirmed seven previously reported loci (BLK,IRF5,STAT4,TNFAIP3,TNFSF4, 6q21 and 22q11.21; 5.17 × 10−42≤Pcombined≤ 5.18 × 10−12). Comparison with previous GWAS findings highlighted the genetic heterogeneity of SLE susceptibility between Chinese Han and European populations. This study not only advances our understanding of the genetic basis of SLE but also highlights the value of performing GWAS in diverse ancestral populations.