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Single nucleotide polymorphisms of DNA repair genes XRCC1 and XPD and its molecular mapping in Indian oral cancer

Authors
Journal
Oral Oncology
1368-8375
Publisher
Elsevier
Publication Date
Volume
42
Issue
4
Identifiers
DOI: 10.1016/j.oraloncology.2005.08.010
Keywords
  • Single Nucleotide Polymorphisms
  • Oral Cancer
  • Dna Repair Genes
  • Xrcc1
  • Xpd
Disciplines
  • Biology

Abstract

Summary Tobacco users with diminished ability to repair somatic mutations may be more susceptible to tobacco attributable cancers. The distribution of single nucleotide polymorphisms (SNPs) in DNA repair genes XRCC1 and XPD in 110 oral carcinoma cases, 84 leukoplakia and 110 controls belonging to the Travancore South Indian population were examined. SNPs investigated included Arg194 Trp, Arg280 His, and Arg399 Gln of the XRCC1 gene and Lys751 Gln of the XPD gene. In addition, one of the variants positions, A399G, was mapped onto the BRCT I domain model built by comparative modeling (threading). Presence of the polymorphic variant of XRCC1 codon 194 and 399 and XPD was associated with increased risk of oral cancer compared to the wild genotype. Smokers and betel quid chewers with the variant allele of XRCC1 399 codon and XPD also exhibited increased risk of oral cancer. The A399G variant position mapped onto the surface of the BRCT I domain provides a possible rationale for altered XRCC1 function. These results suggest that polymorphisms in functionally important repair genes, specifically, those that map onto the protein surface may alter protein function without significantly affecting its structure.

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