title: Family-based analysis of susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3.
abstract: BACKGROUND
  Polycystic ovary syndrome (PCOS) is a complex endocrine-metabolic disorder. A previous genome-wide association study (GWAS) identified five single nucleotide polymorphisms (SNPs) which were independently associated with PCOS in Han Chinese. To overcome population stratiﬁcation, a family-based analysis was conducted to validate whether these five SNPs are associated with PCOS.
  
  
  METHODS
  A total of 276 family trios (828 participants) having a proband with PCOS were included in the family-based study. The transmission disequilibrium test (TDT) was used to analyze the association between PCOS and five SNPs rs13429458, rs12478601, rs13405728, rs10818854 and rs2479106 in three susceptible loci 2p16.3, 2p21 and 9q33.3.
  
  
  RESULTS
  A positive association was observed for the SNP rs13429458 (P= 3.74 × 10(-5)).
  
  
  CONCLUSIONS
  TDT confirms that SNP rs13429458, in the THADA gene, is significantly associated with risk of PCOS. This family-based analysis enhances our previous case-control GWAS and provides further support for the role of susceptibility loci in PCOS.
authors.affiliation: Center for Reproductive Medicine,  Provincial Hospital Affiliated to Shandong University, 324 Jingwu Road, 250021 Jinan,  People's Republic of China.
authors.forename: Han
authors.initials: H
authors.lastname: Zhao
authors.forename: Xinghua
authors.initials: X
authors.lastname: Xu
authors.forename: Xiuye
authors.initials: X
authors.lastname: Xing
authors.forename: Jianfeng
authors.initials: J
authors.lastname: Wang
authors.forename: Lin
authors.initials: L
authors.lastname: He
authors.forename: Yongyong
authors.initials: Y
authors.lastname: Shi
authors.forename: Yuhua
authors.initials: Y
authors.lastname: Shi
authors.forename: Yueran
authors.initials: Y
authors.lastname: Zhao
authors.forename: Zi-Jiang
authors.initials: ZJ
authors.lastname: Chen
mesh_terms: D002681:China; D002889:Chromosomes, Human, Pair 2; D002899:Chromosomes, Human, Pair 9; D017931:DNA Primers / Q000235:genetics; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D017931:DNA Primers