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PLoS One. 2015 Oct 16;10(10):e0140695. doi: 10.1371/journal.pone.0140695. eCollection 2015.

Systematic Evaluation of Genetic Variants for Polycystic Ovary Syndrome in a Chinese Population.

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Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China; Institute of Reproductive Genetics, Anhui Medical University, Hefei, 230022, China; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, 230022, China.
The Bio-X Institutes, Shanghai Jiao Tong University, 1954 Huashan Road, Shanghai, 200030, China.


To date, eleven genome-wide significant (GWS) loci (P < 5×10-8) for polycystic ovary syndrome (PCOS) have been identified through genome-wide association studies (GWAS). Some of the risk loci have been selected for replications and validated in multiple ethnicities, however, few previous studies investigated all loci. Scanning all the GWAS variants would demonstrate a more informative profile of variance they explained. Thus, we analyzed all the 17 single nucleotide polymorphisms (SNPs) mapping to the 11 GWAS loci in an independent sample set of 800 Chinese subjects with PCOS and 1110 healthy controls systematically. Variants of rs3802457 in C9orf3 locus (P = 5.99×10-4) and rs13405728 in LHCGR locus (P = 3.73×10-4) were significantly associated with PCOS after the strict Bonferroni correction in our data set. The further haplotype analysis indicated that in the block of C9orf3 gene (rs4385527 and rs3802457), GA haplotype played a protective role in PCOS (8.7 vs 5.0, P = 9.85×10-6, OR = 0.548, 95%CI = 0.418-0.717), while GG haplotype was found suffering from an extraordinarily increased risk of PCOS (73.6% vs79.2%, P = 3.41×10-5, OR = 1.394, 95%CI = 1.191-1.632). Moreover, the directions of effects for all SNPs were consistent with previous GWAS reports (P = 1.53×10-5). Polygenic score analysis demonstrated that these 17 SNPs have a significant capacity on predicting case-control status in our samples (P = 7.17×10-9), meanwhile all these gathered 17 SNPs explained about 2.40% of variance. Our findings supported that C9orf3 and LHCGR loci variants were vital susceptibility of PCOS.

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