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Polymorphisms of DNA repair genes are associated with renal cell carcinoma

Hiroshi Hirata1, Yuji Hinoda, Hideyasu Matsuyama

  • 1Department of Urology, Veterans Affairs Medical Center and University of California at San Francisco, San Francisco, CA 94121, USA.

Biochemical and Biophysical Research Communications
|March 3, 2006
PubMed

Insights

Single nucleotide polymorphisms (SNPs) in DNA repair genes may increase cancer risk. This study found a specific XRCC1 gene variant (Arg399Gln) is linked to higher susceptibility for renal cell carcinoma (RCC).

Area of Science:

  • Genetics
  • Oncology
  • Molecular Biology

Background:

  • DNA repair gene alterations can reduce DNA repair capacity, potentially increasing cancer susceptibility.
  • Single nucleotide polymorphisms (SNPs) in DNA repair genes are known to decrease DNA repair activity.

Purpose of the Study:

  • To investigate if SNPs in DNA repair genes represent a risk factor for developing renal cell carcinoma (RCC).

Main Methods:

  • Analyzed DNA samples from 112 RCC cases and 180 healthy controls using PCR-RFLP.
  • Determined genotypic frequencies for six polymorphic loci across five DNA repair genes (XRCC1, XPC, ERCC1, XRCC3, XRCC7).
  • Utilized the chi-squared test to compare genotype frequencies between patient and control groups.

Main Results:

  • The XRCC1 Arg399Gln polymorphism (399Gln variant) showed a significantly higher frequency in RCC cases compared to controls (OR=2.83, P=0.01).
  • A T-A haplotype (XRCC1 194 Trp and XRCC1 399Gln) was also significantly more frequent in RCC patients.
  • No significant genotype differences were observed for other tested polymorphic sites.

Conclusions:

  • This study is the first to report on DNA repair gene SNPs in relation to RCC.
  • The XRCC1 399Gln polymorphism suggests a potential risk factor for developing renal cell carcinoma.
  • The XRCC1 399Gln allele may be associated with increased susceptibility to RCC.

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