title: Polymorphisms of DNA repair genes are associated with renal cell carcinoma.
abstract: DNA repair gene alterations have been shown to cause a reduction in DNA repair capacity and may influence an individual's susceptibility to carcinogenesis. Single nucleotide polymorphisms (SNPs) of DNA repair genes have been shown to cause a reduction in repair activity. We hypothesized that SNPs of DNA repair genes may be a risk factor for renal cell carcinoma (RCC). To test this hypothesis, DNA samples from 112 cases of renal cell cancer and healthy controls (n=180) were analyzed by PCR-RFLP to determine the genotypic frequency of six different polymorphic loci on five DNA repair genes (XRCC1, XPC, ERCC1, XRCC3, and XRCC7). The chi(2) test was applied to compare the genotype frequency between patients and controls. We found that the frequency of 399Gln variant at XRCC1 Arg399Gln was significantly higher in RCC cases than in controls (OR=2.83, 95%CI=1.24-6.49, P=0.01). The frequency of T-A haplotype of XRCC1 194 Trp and XRCC1 399Gln was significantly higher in RCC than controls. No differences in genotypes were observed at the other sites. This is the first report on SNPs of DNA repair genes in renal cell carcinoma that suggests XRCC1 399Gln polymorphism may be a risk factor for RCC. Our present data suggest that the XRCC1 399Gln allele may be linked to susceptibility for RCC.
authors.affiliation: Department of Urology, Veterans Affairs Medical Center and University of California at San Francisco, San Francisco, CA 94121, USA.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Hirata
authors.forename: Yuji
authors.initials: Y
authors.lastname: Hinoda
authors.forename: Hideyasu
authors.initials: H
authors.lastname: Matsuyama
authors.forename: Yuichiro
authors.initials: Y
authors.lastname: Tanaka
authors.forename: Naoko
authors.initials: N
authors.lastname: Okayama
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Suehiro
authors.forename: Hong
authors.initials: H
authors.lastname: Zhao
authors.forename: Shinji
authors.initials: S
authors.lastname: Urakami
authors.forename: Ken
authors.initials: K
authors.lastname: Kawamoto
authors.forename: Toshifumi
authors.initials: T
authors.lastname: Kawakami
authors.forename: Mikio
authors.initials: M
authors.lastname: Igawa
authors.forename: Katsusuke
authors.initials: K
authors.lastname: Naito
authors.forename: Rajvir
authors.initials: R
authors.lastname: Dahiya
mesh_terms: D000328:Adult; D000368:Aged; D002292:Carcinoma, Renal Cell / Q000453:epidemiology / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007564:Japan / Q000453:epidemiology; D007680:Kidney Neoplasms / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015995:Prevalence; D018570:Risk Assessment / Q000379:methods*; D012307:Risk Factors
chemical_list: D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins