title: [Ala499Val (C > T) and Lys939Gln (A > C) polymorphisms of the XPC gene: their correlation with male infertility].
abstract: OBJECTIVE
  The Ala499Val (C > T) and Lys939Gln (A > C) of the XPC gene are two potentially functional nonsynonymous polymorphisms, which affect the rate of DNA repair and might change XPC production and activity. This study aimed to explore the distribution of these two polymorphisms in the Chinese Han population and their relationship with male infertility.
  
  
  METHODS
  We genotyped the two polymorphisms of the XPC gene by the PCR-restriction fragment length polymorphism (PCR-RFLP) method in 318 infertile patients and 228 fertile male controls, detected the frequency of the alleles, and analyzed both the individual and the joint contribution of the two polymorphisms to male infertility.
  
  
  RESULTS
  For the Ala499Val (C > T) polymorphism, the frequencies of the CC, CT, and TT genotypes were significantly different in distribution between the patients and the controls (P = 0.020). Males with the TT genotype had a lower risk of male infertility than those with the CC genotype (adjusted OR = 0.49, 95% CI: 0.23-0.88), and even lower than those with both CC and CT genotypes (adjusted OR = 0.39, 95% CI: 0.22-0.71). The Lys939Gln (A > C) polymorphism was not related with male infertility. The combined genotype analysis showed that the individuals with 1-4 risk alleles had a significantly higher risk of male infertility (adjusted OR = 2.75, 95% CI = 1.50-5.04) than those with 0 risk allele.
  
  
  CONCLUSIONS
  The Ala499Val (C > T) polymorphism of the XPC gene is correlated with male infertility and may be a potential genetic risk factor for male infertility in the Chinese Han population.
authors.affiliation: Institute for Toxicology and Function Assessment, Jiangsu Provincial Center for Disease Prevention and Control, Nanjing, Jiangsu 210009, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Liang
authors.forename: Chun-cheng
authors.initials: CC
authors.lastname: Lu
authors.forename: Ai-hua
authors.initials: AH
authors.lastname: Gu
authors.forename: Yan-kai
authors.initials: YK
authors.lastname: Xia
authors.forename: Zhong-ming
authors.initials: ZM
authors.lastname: Lü
authors.forename: Jun
authors.initials: J
authors.lastname: Xu
authors.forename: Gen-yong
authors.initials: GY
authors.lastname: Shi
authors.forename: Min-sheng
authors.initials: MS
authors.lastname: Wang
authors.forename: Xin-ru
authors.initials: XR
authors.lastname: Wang
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D004260:DNA Repair; 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; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D004268:DNA-Binding Proteins; C086984:XPC protein, human