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Polymorphisms in DNA repair gene XRCC1 and increased genetic susceptibility to glioma

Xue-Bin Hu1, Zhe Feng, Yu-Cong Fan

  • 1Department of Neurosurgery, Union Hospital, Tongji Medical College, Wuhan, China.

Asian Pacific Journal of Cancer Prevention : APJCP
|March 8, 2012
PubMed
Abstract

Insights

Specific XRCC1 gene variations at codons 194 and 399 are linked to an increased glioma risk in the Chinese population. These DNA repair gene polymorphisms may contribute to genetic predisposition to glioma.

Area of Science:

  • Genetics
  • Molecular Biology
  • Oncology

Background:

  • The XRCC1 gene is crucial for base-excision repair (BER) pathways.
  • XRCC1 gene polymorphisms may alter DNA repair activity, potentially increasing cancer risk.
  • This study investigates the association between XRCC1 gene polymorphisms and glioma risk.

Purpose of the Study:

  • To examine the association between three XRCC1 gene polymorphisms (codons 194, 280, 399) and glioma risk.
  • To determine if specific XRCC1 genotypes influence susceptibility to glioma.

Main Methods:

  • A case-control study involving 127 primary glioma patients and 249 controls.
  • Genotyping of XRCC1 polymorphisms at codons 194, 280, and 399 using duplex polymerase-chain-reactions with the confronting-two-pair primer (PCR-CTPP) method.
  • Analysis of venous blood samples from all participants.

Main Results:

  • XRCC1 codon 194 Trp/Trp and Arg/Trp genotypes showed increased glioma risk (2.12-fold and 1.46-fold, respectively).
  • XRCC1 codon 399 Gln/Gln and Arg/Gln genotypes were associated with increased glioma risk (2.24-fold and 1.67-fold, respectively).
  • Combined XRCC1 codon 194 Trp allele and 399 Gln allele significantly elevated glioma risk (OR=2.87).

Conclusions:

  • XRCC1 codon 194 and 399 polymorphisms are potentially associated with genetic predisposition to glioma in the Chinese population.
  • These findings contribute to understanding the interplay of DNA repair genes and environmental factors in glioma development.

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