title: The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia.
abstract: OBJECTIVE
  To explore the possible association between the common single nucleotide polymorphism N372H in human breast cancer susceptibility gene 2 (BRCA2) and the idiopathic male infertility with azoospermia or severe oligozoospermia.
  
  
  METHODS
  The study included 240 infertile patients with idiopathic azoospermia or severe oligozoospermia and 250 fathered controls. The allele and genotype frequencies of the polymorphism N372H in BRCA2 gene were investigated in both patients and controls using denaturing high performance liquid chromatography analysis (DHPLC).
  
  
  RESULTS
  The frequency of allele H of the polymorphism N372H in patients was significantly higher than that of the controls (23.5% versus 17.6%, OR = 1.49, 95% CI 1.06-1.97, P = 0.02) and the subjects bearing rare allele H (NH + HH) significantly increased in patients compared with controls (41.7% versus 32.4%, 95% CI 1.03-2.15, P = 0.03).
  
  
  CONCLUSIONS
  The results of this study suggested that the polymorphism N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia.
authors.affiliation: Department of Medical Genetics, West China Hospital, Sichuan University, and Division of Human Morbid Genomics, National Key Laboratory of Biotherapy, Chengdu 610041, PR China.
authors.forename: A
authors.initials: A
authors.lastname: Zhoucun
authors.forename: Sizhong
authors.initials: S
authors.lastname: Zhang
authors.forename: Yuan
authors.initials: Y
authors.lastname: Yang
authors.forename: Yongxin
authors.initials: Y
authors.lastname: Ma
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Li
authors.initials: L
authors.lastname: Lin
mesh_terms: D002851:Chromatography, High Pressure Liquid; D005787:Gene Frequency; D024522:Genes, BRCA2; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D009845:Oligospermia / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide