Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome

Y Shi, H Zhao, Y Shi, Y Cao, D Yang, Z Li, B Zhang…�- Nature�…, 2012 - nature.com
Y Shi, H Zhao, Y Shi, Y Cao, D Yang, Z Li, B Zhang, X Liang, T Li, J Chen, J Shen, J Zhao…
Nature genetics, 2012nature.com
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 at P< 5� 10− 8: 9q22�…
Abstract
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 at P < 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 (the FSHR gene). 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.
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