title: Family-based analysis of eight susceptibility loci in polycystic ovary syndrome.
abstract: Polycystic ovary syndrome (PCOS) is a complex endocrine disorder that is proposed to have a genetic basis. A recent genome-wide association study (GWAS) identified eight new risk loci that are independently associated with PCOS. To further validate the findings, a total of 321 case-parent trios (963 participants) who had a proband affected with PCOS were recruited for the family-based study. The transmission disequilibrium test (TDT) was used to analyze associations between PCOS and ten single nucleotide polymorphisms (SNPs) mapped to eight new susceptibility loci. Significant differences in transmission were observed for the SNPs rs2349415 (located in the FSHR gene, P = 0.0001) and rs3802457 (located in the C9orf3 gene, P = 0.0001), even after correction for multiple testing bias. The present data provides further evidence for an association between two susceptibility loci, 2p16.3 and 9q22.32, and PCOS. Follow-up functional studies on the FSHR and C9orf3 genes are required to understand their roles in PCOS development.
authors.affiliation: 1] Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Center for Reproductive Medicine, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China [2] Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.
authors.forename: Shigang
authors.initials: S
authors.lastname: Zhao
authors.affiliation: Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Center for Reproductive Medicine, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China.
authors.forename: Ye
authors.initials: Y
authors.lastname: Tian
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.
authors.forename: Xuan
authors.initials: X
authors.lastname: Gao
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.
authors.forename: Xiuqing
authors.initials: X
authors.lastname: Zhang
authors.affiliation: 1] Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China [2] The Chinese University of Hong Kong-Shandong University Joint Laboratory on Reproductive Genetics, School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China.
authors.forename: Hongbin
authors.initials: H
authors.lastname: Liu
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.
authors.forename: Li
authors.initials: L
authors.lastname: You
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.
authors.forename: Yongzhi
authors.initials: Y
authors.lastname: Cao
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.
authors.forename: Shizhen
authors.initials: S
authors.lastname: Su
authors.affiliation: The Chinese University of Hong Kong-Shandong University Joint Laboratory on Reproductive Genetics, School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China.
authors.forename: Wai-Yee
authors.initials: WY
authors.lastname: Chan
authors.affiliation: Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Center for Reproductive Medicine, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Sun
authors.affiliation: Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.
authors.forename: Han
authors.initials: H
authors.lastname: Zhao
authors.affiliation: 1] Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Center for Reproductive Medicine, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China [2] Center for Reproductive Medicine, Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, China; The Key laboratory for Reproductive Endocrinology of Ministry of Education, China; Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D000328:Adult; D000483:Alleles; D000626:Aminopeptidases / Q000235:genetics; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study / Q000379:methods*; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011962:Receptors, FSH / Q000235:genetics; D012307:Risk Factors; D055815:Young Adult
chemical_list: D011962:Receptors, FSH; C501315:AOPEP protein, human; D000626:Aminopeptidases