title: [Association of FOXE1 gene polymorphism with idiopathic premature ovarian failure].
abstract: OBJECTIVE
  To assess the influence of length of the alanine tract of forkhead box E1 (FOXE1) gene on genetic susceptibility to idiopathic premature ovarian failure (POF).
  
  
  METHODS
  Totally 110 patients with idiopathic POF were recruited between February 2009 and December 2012 at the Affiliated Shenzhen City Maternity and Child Healthcare Hospital of Southern Medical University. Controls (n = 110) were individuals with normal menstrual cycles, normal FSH concentrations. The polyalanine tract and flanking sequence of FOXE1 were screened using the multiplex ligation-dependent probe amplification (MLPA) technique and direct sequence technique.
  
  
  RESULTS
  The most frequent of FOXE1 polyalanine stretch length was 14 residues in both groups. The length of FOXE1 polyalanine reported in this study varied from 12 to 16 alanines, and three variants of FOXE1-polyalanine length, containing 12, 14, or 16 alanine residues, and 5 different genotypes were identified. The most common genotypes were 14/14 homozygote, occurring with the frequency of 81.8% (90/110) in the POF group, while 96.4% (106/110) in control subjects, respectively. The incidence of 14/14 genotypes of FOXE1-polyalanine was significantly lower in patients with POF (χ² = 119.730, P = 0.001) in comparison to the controls. There were significantly higher frequencies of the 16/16 genotypes in cases with POF [10.0% (11/110) versus 0; χ² = 3.403, P = 0.001], as compared with the controls. The FOXE1 14 alanine allele was significantly less common in the POF patient group than the controls [84.5% (186/220) versus 98.2% (216/220); χ² = 25.923, P = 0.001]. The FOXE1 16 alanine allele was significantly more common in the POF patient group than the controls [12.7% (28/220) versus 1.8% (4/220); χ² = 19.412, P = 0.001].
  
  
  CONCLUSIONS
  The polymorphism of the polyalanine tract of FOXE1 gene have a certain relevance for the genetic aetiology of idiopathic POF.
authors: Reproductive Medicine Center, Affiliated Shenzhen City Maternity and Child Healthcare Hospital of Southern Medical University, Shenzhen 518028, China.
authors: Chunrong
authors: C
authors: Qin
authors: Reproductive Medicine Center, Affiliated Shenzhen City Maternity and Child Healthcare Hospital of Southern Medical University, Shenzhen 518028, China. Email: yao13823@sina.com.
authors: Jilong
authors: J
authors: Yao
authors: Reproductive Medicine Center, Affiliated Shenzhen City Maternity and Child Healthcare Hospital of Southern Medical University, Shenzhen 518028, China.
authors: Zhen
authors: Z
authors: Yuan
authors: Reproductive Medicine Center, Affiliated Shenzhen City Maternity and Child Healthcare Hospital of Southern Medical University, Shenzhen 518028, China.
authors: Xiaohui
authors: X
authors: Ren
authors: Reproductive Medicine Center, Affiliated Shenzhen City Maternity and Child Healthcare Hospital of Southern Medical University, Shenzhen 518028, China.
authors: Jiansheng
authors: J
authors: Xie
authors: Reproductive Medicine Center, Affiliated Shenzhen City Maternity and Child Healthcare Hospital of Southern Medical University, Shenzhen 518028, China.
authors: Weiqing
authors: W
authors: Wu
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D060885:Multiplex Polymerase Chain Reaction; D010455:Peptides / Q000378:metabolism*; D011110:Polymorphism, Genetic; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
chemical_list: C106894:FOXE1 protein, human; D051858:Forkhead Transcription Factors; D010455:Peptides; C019529:polyalanine