title: Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
abstract: 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 × 10⁻²¹, odds ratio (OR) 0.71); 2p21 (rs13429458, P(meta) = 1.73 × 10⁻²³, OR 0.67); and 9q33.3 (rs2479106, P(meta) = 8.12 × 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.
authors.affiliation: Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, Jinan, Shandong, China. zjchen59@yahoo.com
authors.forename: Zi-Jiang
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authors.lastname: Chen
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authors.forename: Yingying
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authors.forename: Yingpu
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authors.lastname: Sun
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authors.lastname: Bian
authors.forename: Xuan
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authors.forename: Cuifang
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authors.lastname: Hao
authors.forename: Chun-E
authors.initials: CE
authors.lastname: Ren
authors.forename: Yajie
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authors.lastname: Zhang
authors.forename: Shiling
authors.initials: S
authors.lastname: Chen
authors.forename: Wei
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authors.forename: Aijun
authors.initials: A
authors.lastname: Yang
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mesh_terms: D044466:Asian People; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D015894:Genome, Human / Q000235:genetics*; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D015201:Meta-Analysis as Topic; D016017:Odds Ratio; D011085:Polycystic Ovary Syndrome / Q000235:genetics*