Susceptibility of XRCC3, XPD, and XPG genetic variants to cervical carcinoma

Pathobiology. 2008;75(6):356-63. doi: 10.1159/000164220. Epub 2008 Dec 15.

Abstract

Objective: DNA repair genes play a key role in maintaining genomic stability and integrity. DNA repair gene polymorphisms, such as those of XRCC3 and xeroderma pigmentosum, complementation group D and G (XPD, XPG), contribute to carcinogenesis. In this study, we investigated the correlation between cervical carcinoma risk and XRCC3, XPD, XPG genetic variants.

Methods: A case-control study of 400 cases including 200 carcinoma, 200 cervical intraepithelial neoplasia (CIN) and 200 normal women was performed. Four single nucleotide polymorphisms (SNPs) (XRCC3 Thr241Met, XPG His1104Asp, XPD Asp312Asn, and XPD Lys751Gln) were genotyped by mismatch amplification polymerase chain reaction.

Results: Women carrying homozygous Asp1104Asp genotypes had a significantly decreased risk of cervical or cervical squamous cell carcinoma compared to His1104Asp or His1104His genotypes. Similarly, XPD Asn312Asn (AA) reduced the risk of cervical or cervical squamous cell carcinoma. No association of XRCC3 Thr241Met or XPD Lys751Gln and cervical carcinoma was found. None of the 4 SNPs influenced the risk of CIN in our study.

Conclusion: Our results support the hypothesis that genetic variations in DNA repair genes may contribute to an inherited genetic susceptibility to cervical carcinoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Carcinoma, Squamous Cell / genetics*
  • Case-Control Studies
  • DNA Repair / genetics
  • DNA-Binding Proteins / genetics*
  • Endonucleases / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Nuclear Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Transcription Factors / genetics*
  • Uterine Cervical Dysplasia / genetics
  • Uterine Cervical Neoplasms / genetics*
  • Xeroderma Pigmentosum Group D Protein / genetics*

Substances

  • DNA excision repair protein ERCC-5
  • DNA-Binding Proteins
  • Nuclear Proteins
  • Transcription Factors
  • X-ray repair cross complementing protein 3
  • Endonucleases
  • Xeroderma Pigmentosum Group D Protein