title: Association of XRCC1 gene polymorphisms with idiopathic azoospermia in a Chinese population.
abstract: OBJECTIVE
  To assess the possible role of genetic polymorphisms in DNA repair gene XRCC1 (X-ray repair cross-complementing group 1) during spermatogenesis by investigating the associations of one promoter polymorphism (T-77C) and two exonic polymorphisms (Arg194Trp and Arg399Gln) in XRCC1 gene with risk of idiopathic azoospermia in a Chinese population.
  
  
  METHODS
  The genotype and allele frequencies of three observed polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism based on a Chinese population consisting of 171 idiopathic azoospermia subjects and 247 normal-spermatogenesis controls.
  
  
  RESULTS
  In our study, all the observed genotype frequencies were in agreement with Hardy-Weinberg equilibrium. The 399A (GA+AA) allele frequency for idiopathic azoospermia subjects and controls was 0.216 and 0.269, respectively. Compared with GG genotype, the AA genotype of Arg399Gln showed a significant association with a decreased risk of idiopathic azoospermia (odds ratio = 0.315; 95% confidence interval = 0.12-0.86). However, no significant differences were found between the cases and controls for T-77C and Arg194Trp polymorphisms. The major haplotypes of XRCC1 gene were TCG, TTG and TCA, whereas no haplotypes appeared to be significantly associated with idiopathic azoospermia based on the cutoff of P < 0.05.
  
  
  CONCLUSIONS
  In a selected Chinese population, AA genotype of Arg399Gln appears to contribute to a decreased risk of idiopathic azoospermia, while we have not any evidence of involvement of XRCC1 T-77C and Arg194Trp polymorphisms in idiopathic azoospermia.
authors.affiliation: Jiangsu Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China.
authors.forename: Ai-Hua
authors.initials: AH
authors.lastname: Gu
authors.forename: Jie
authors.initials: J
authors.lastname: Liang
authors.forename: Ning-Xia
authors.initials: NX
authors.lastname: Lu
authors.forename: Bin
authors.initials: B
authors.lastname: Wu
authors.forename: Yan-Kai
authors.initials: YK
authors.lastname: Xia
authors.forename: Chun-Cheng
authors.initials: CC
authors.lastname: Lu
authors.forename: Lin
authors.initials: L
authors.lastname: Song
authors.forename: Shou-Lin
authors.initials: SL
authors.lastname: Wang
authors.forename: Xin-Ru
authors.initials: XR
authors.lastname: Wang
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D053713:Azoospermia / Q000208:ethnology / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D004268:DNA-Binding Proteins / Q000235:genetics*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics*; D012307:Risk Factors; D013091:Spermatogenesis / Q000235:genetics; D000076105:X-ray Repair Cross Complementing Protein 1
chemical_list: D004268:DNA-Binding Proteins; D000076105:X-ray Repair Cross Complementing Protein 1; C000619371:XRCC1 protein, human