title: XRCC1 Arg399Gln polymorphism and risk for cervical cancer development in Argentine women.
abstract: BACKGROUND
  XRCC1 (X-ray repair cross-complementing group 1) plays a central role in the DNA base excision repair mechanism. Single nucleotide polymorphisms (SNPs) in the XRCC1 gene are thought to modulate DNA repair capacity and have been linked to cancer risk in several studies.
  
  
  METHODS
  We conducted a case-control study comprising 217 cervical samples, including 103 cervical carcinomas and 114 normal tissue samples. Cervical samples were genotyped for two XRCC1 SNPs (Arg194Trp and Arg399Gln) by PCR-RFLPs.
  
  
  RESULTS
  Subjects carrying heterozygous Arg399Gln or the combined Gln399Gln + Arg399Gln variant genotypes had a significantly reduced risk for cervical cancer development. In addition, the 194Arg-399Gln haplotype was also found to be associated with a decreased risk for cervical carcinoma.
  
  
  CONCLUSIONS
  Our findings suggest that XRCC1 genotypes and haplotypes contribute in reducing the risk for cervical cancer development. Furthermore, genetic susceptibility conferred by Arg399Gln polymorphism operates independently of human papillomavirus infection of cervical tissue.
authors.affiliation: IGEVET (Institute of Veterinary Genetics "Ingeniero Fernando Noel Dulout") Faculty of Veterinary Science, National University of La Plata, Buenos Aires, Argentina. gbarbisanla@yahoo.com
authors.forename: G
authors.initials: G
authors.lastname: Barbisan
authors.forename: L O
authors.initials: LO
authors.lastname: Pérez
authors.forename: L
authors.initials: L
authors.lastname: Difranza
authors.forename: C J
authors.initials: CJ
authors.lastname: Fernández
authors.forename: N E
authors.initials: NE
authors.lastname: Ciancio
authors.forename: C D
authors.initials: CD
authors.lastname: Golijow
mesh_terms: D000328:Adult; D000483:Alleles; D001118:Argentina; D016022:Case-Control Studies; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D027383:Papillomaviridae / Q000235:genetics; D030361:Papillomavirus Infections / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D012306:Risk; D002583:Uterine Cervical Neoplasms / Q000235:genetics* / Q000821:virology; 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