Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome
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全基因组关联研究确定了多囊卵巢综合征的八个新风险位点
DOI：
10.1038/ng.2384
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发表时间：
2012-09-01
期刊：
影响因子：
30.8
通讯作者：
Chen, Zi-Jiang
中科院分区：
文献类型：
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作者：
Shi, Yongyong;Zhao, Han;Chen, Zi-Jiang
根据先前的全基因组关联研究(GWAS1)，包括744例患者和895名对照，我们分析了一个新的中国汉族人队列(GWAS2)与1510例多囊卵巢综合征(PCOS)病例和2016名对照的全基因组关联数据。我们跟踪了在GWA1和GWAS2的综合结果中确定的显著相关信号，这些信号在总共8,226例患者和7,578名对照中被发现。除了证实了我们先前报道的3个基因座外，我们还发现了8个新的PCOS关联信号atp<；5×10−8：9q22.32，11q22.1，12q13.2，12q14.3，16q12.1，19p13.3，20q13.2，以及2p16.3处的第二个独立信号(FSHR基因)。这些与PCOS相关的信号表明，与胰岛素信号、性激素功能和2型糖尿病(T2D)相关的候选基因丰富。其他候选基因与钙信号和内吞作用有关。我们的发现为发现多囊卵巢综合征的生物学机制提供了新的见解和方向。
Following a previous genome-wide association study (GWAS 1) including 744 cases and 895 controls, we analyzed genome-wide association data from a new cohort of Han Chinese (GWAS 2) with 1,510 polycystic ovary syndrome (PCOS) cases and 2,016 controls. We followed up significantly associated signals identified in the combined results of GWAS 1 and 2 in a total of 8,226 cases and 7,578 controls. In addition to confirming the three loci we previously reported, we identify eight new PCOS association signals atP< 5 × 10−8: 9q22.32, 11q22.1, 12q13.2, 12q14.3, 16q12.1, 19p13.3, 20q13.2 and a second independent signal at 2p16.3 (theFSHRgene). These PCOS association signals show evidence of enrichment for candidate genes related to insulin signaling, sexual hormone function and type 2 diabetes (T2D). Other candidate genes were related to calcium signaling and endocytosis. Our findings provide new insight and direction for discovering the biological mechanisms of PCOS.