Abstract

The distribution of DNA repair gene XRCC1 and XRCC3 genotypes was used to assess the potential influence of genetic polymorphisms on risk of colorectal cancer, and interactions with other factors. A 1:2 matched case-control study was conducted with 485 cases and 970 controls. XRCC1 and XRCC2 genotype polymorphisms were based upon duplex polymerase-chain-reaction with the confronting-two-pairprimer (PCR-CTPP) method. The XRCC1 399Cln allele polymorphism was found to be associated with an increased colorectal cancer risk, while an non-significant inversely association was noted for XRCC3 241Thr/Thr genotype. We also found that individuals with the XRCC1 399 Gln and XRCC3 241Met alleles had an elevated risk, while XRCC3241Thr/Thr was proctective. This study is the first to provide evidence of importance of XRCC1 and XRCC3 gene polymorphisms for risk of colorectal cancer in the Chinese population.

Highlights

  • Colorectal cancer is the third most common cancer in men (663,000 cases, 10.0% of the total) and the second in women (571,000 cases, 9.4% of the total) worldwide

  • Results:The XRCC1 399Cln allele polymorphism was found to be associated with an increased colorectal cancer risk, while an non-significant inversely association was noted for XRCC3 241Thr/Thr genotype

  • We investigated the associations between agreement with the Hardy-Weinberg equilibrium (p=0.19 genetic polymorphisms in the DNA repair gene XRCC1 for Arg399Gln and p=0.26 for Thr241Met)

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Summary

Introduction

Colorectal cancer is the third most common cancer in men (663,000 cases, 10.0% of the total) and the second in women (571,000 cases, 9.4% of the total) worldwide. Three common polymorphisms occurring at conserved sequences in XRCC1 gene have been reported, and amino acid substitutionsin XRCC1 were at codons 194 (exon 6, C4 T, Arg Trp), 280 (exon 9, G4 A, Arg His), and 399 (exon 10, G4 A, Arg Gln) (Shen et al, 1998). These mutations could alter XRCC1 function, diminish repair kinetics, influence susceptibility to adverse health effect, such as cancer

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