title: Association of XRCC4 codon 247 polymorphism with oral cancer susceptibility in Taiwan.
abstract: BACKGROUND
  The DNA repair gene XRCC4, an important caretaker of overall genome stability, is thought to play a major role in the development of human carcinogenesis. However, the association of the polymorphic variants of XRCC4 with oral cancer susceptibility has never been reported.
  
  
  METHODS
  In this hospital-based case-control study, the association of XRCC4 codon 247 (rs3734091), G-1394T (rs6869366), intron 7 (rs28360317) and intron 7 (rs1805377) polymorphisms with oral cancer risk in a Central Taiwanese population was investigated. In total, 318 patients with oral cancer and 318 age- and gender-matched healthy controls recruited from the China Medical Hospital in Central Taiwan were genotyped.
  
  
  RESULTS
  A significantly different distribution was found in the frequency of the XRCC4 codon 247 genotype, but not the XRCC4 G-1394T or intron 7 genotypes, between the oral cancer and control groups. A/C heterozygosity at XRCC4 codon 247 conferred a significant (2.04-fold) increased risk of oral cancer. As for XRCC4 G-1394T and intron 7 polymorphisms, there was no difference in distribution between the oral cancer and control groups. Gene-environment interactions with smoking, but not with betel quid chewing or alcohol consumption, were significant for XRCC4 codon 247 polymorphism. The XRCC4 codon 247 A/C genotype in association with smoking conferred an increased risk of 3.44 (95% confidence interval = 1.24-9.60) for oral cancer.
  
  
  CONCLUSIONS
  Our results provide the first evidence that the heterozygous A allele of the XRCC4 codon 247 may be associated with the development of oral cancer and may be a novel useful marker for primary prevention and anticancer intervention.
authors.affiliation: Departments of Otolaryngology, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Hsien-Chang
authors.initials: HC
authors.lastname: Tseng
authors.forename: Ming-Hsui
authors.initials: MH
authors.lastname: Tsai
authors.forename: Chang-Fang
authors.initials: CF
authors.lastname: Chiu
authors.forename: Chung-Hsing
authors.initials: CH
authors.lastname: Wang
authors.forename: Nai-Wen
authors.initials: NW
authors.lastname: Chang
authors.forename: Chih-Yang
authors.initials: CY
authors.lastname: Huang
authors.forename: Chia-Wen
authors.initials: CW
authors.lastname: Tsai
authors.forename: Shiu-Yun
authors.initials: SY
authors.lastname: Liang
authors.forename: Cheng-Li
authors.initials: CL
authors.lastname: Wang
authors.forename: Da-Tian
authors.initials: DT
authors.lastname: Bau
mesh_terms: D000428:Alcohol Drinking / Q000235:genetics; D000483:Alleles; D016022:Case-Control Studies; D003062:Codon; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007438:Introns; D008297:Male; D009062:Mouth Neoplasms / Q000235:genetics*; D011110:Polymorphism, Genetic; D012907:Smoking / Q000235:genetics; D013624:Taiwan
chemical_list: D003062:Codon; D004268:DNA-Binding Proteins; C101467:XRCC4 protein, human