期刊
NATURE GENETICS
卷 43, 期 1, 页码 55-U75出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.732
关键词
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资金
- National Basic Research Program of China (973 Program) [2006CB944004, 2010CB945000, 2007CB947403, 2007CB914703, 2007CB947300, 2010CB529600]
- National 863 Project of China [2006AA02A407, 2009AA022701]
- National Natural Science Foundation of China [30973170]
- Shanghai Municipal Commission of Science and Technology [09DJ1400601]
Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of PCOS in Han Chinese. The discovery set included 744 PCOS cases and 895 controls; subsequent replications involved two independent cohorts (2,840 PCOS cases and 5,012 controls from northern Han Chinese; 498 cases and 780 controls from southern and central Han Chinese). We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P-meta = 7.55 x 10(-21), odds ratio (OR) 0.71); 2p21 (rs13429458, P-meta = 1.73 x 10(-23), OR 0.67); and 9q33.3 (rs2479106, P-meta = 8.12 x 10(-19), OR 1.34). These findings provide new insight into the pathogenesis of PCOS. Follow-up studies of the candidate genes in these regions are recommended.
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