title: Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women.
abstract: BACKGROUND
  Polycystic ovary syndrome (PCOS) is a common complex genetic endocrinopathy. It has high heritability, and twin studies indicate that it is a complex polygenic disorder. Searching for major genes of PCOS is crucial to clarify its molecular pathogenesis. A previous genome-wide association study in Chinese women with PCOS identified a region on chromosome 2p16.3 that encodes the follicle-stimulating hormone receptor (FSHR) genes as a reproducible PCOS susceptibility locus. In the present study, we performed a replication analysis of the association between two common variants of the FSHR gene and PCOS in Northern Chinese Han women.
  
  
  RESULTS
  We recruited 384 unrelated PCOS patients and 768 healthy individuals from the Shaanxi province in the northern part of China. Two polymorphisms (Ala307Thr and Ser680Asn) of the FSHR gene and the clinical characteristics of the study subjects were analyzed in the case-control sample. The frequency of FSHR Ala307Thr and Ser680Asn variants along with the haplotype was not significantly different between the PCOS patients and the controls; however, the Ser680 variants may be associated with high levels of FSH and low E2 levels.
  
  
  CONCLUSIONS
  The variant of Ser680 was not associated with PCOS but it may be related to high FSH levels. The present study suggests that the two variants of the FSHR gene are not a causative factor of PCOS in Northern Chinese Han women.
authors.affiliation: Fudan University, Shanghai, China.
authors.forename: Lingyuan
authors.initials: L
authors.lastname: Fu
authors.forename: Zhaofeng
authors.initials: Z
authors.lastname: Zhang
authors.forename: Aiping
authors.initials: A
authors.lastname: Zhang
authors.forename: Jianhua
authors.initials: J
authors.lastname: Xu
authors.forename: Xianliang
authors.initials: X
authors.lastname: Huang
authors.forename: Qiupeng
authors.initials: Q
authors.lastname: Zheng
authors.forename: Yunlei
authors.initials: Y
authors.lastname: Cao
authors.forename: Lei
authors.initials: L
authors.lastname: Wang
authors.forename: Jing
authors.initials: J
authors.lastname: Du
mesh_terms: D000328:Adult; D000409:Alanine / Q000235:genetics; D019943:Amino Acid Substitution / Q000502:physiology*; D044466:Asian People / Q000235:genetics*; D001216:Asparagine / Q000235:genetics; D016022:Case-Control Studies; D002681:China / Q000453:epidemiology; D005260:Female; D005787:Gene Frequency / Q000502:physiology; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005843:Geography; D006801:Humans; D020125:Mutation, Missense / Q000502:physiology; D011085:Polycystic Ovary Syndrome / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D011962:Receptors, FSH / Q000235:genetics* / Q000502:physiology; D012694:Serine / Q000235:genetics; D013912:Threonine / Q000235:genetics
chemical_list: D011962:Receptors, FSH; D013912:Threonine; D012694:Serine; D001216:Asparagine; D000409:Alanine
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