title: A novel single nucleotide polymorphism in XRCC4 gene is associated with oral cancer susceptibility in Taiwanese patients.
abstract: The DNA double strand break repair gene XRCC4, an important caretaker of genome stability, is suggested to play a role in the development of human carcinogenesis. However, no evidence has been provided showing that XRCC4 was associated with oral oncology. In this hospital-based case-control study, the association of XRCC4 G-1394T (rs6869366), intron 3 (rs28360071), intron 7 (rs28360317), and intron 7 (rs1805377) polymorphisms with oral cancer risk in a Taiwanese population was first investigated. In total, 318 patients with oral cancer and 318 age- and gender-matched healthy controls were genotyped. We found a significant different distribution in the frequency of the XRCC4 intron 3 genotype, but not the XRCC4 G-1394T or intron 7 genotypes, between the oral cancer and control groups. Those who had heterozygous del/ins at XRCC4 intron 3 showed a 1.57-fold (95% confidence interval=1.12-2.21) increased risk of oral cancer compared to those with ins/ins. As for XRCC4 G-1394T or intron 7 polymorphisms, there was no difference in the distribution between the oral cancer and control groups. There were significant gene-environment interactions between XRCC4 intron 3 genotype with smoking and with betel quid chewing, but not with alcoholism. In smoker and betel quid chewer groups, the XRCC4 intron 3 del variants exhibited 2.57- and 3.03-fold higher risks than the ins genotype, respectively. Our results firstly suggest that the XRCC4 intron 3 del genotype may be associated with oral oncology and may be a novel useful marker for primary prevention and anticancer intervention.
authors.affiliation: Department of Internal Medicine, China Medical University Hospital, Taichung, Taiwan, ROC.
authors.forename: Chang-Fang
authors.initials: CF
authors.lastname: Chiu
authors.forename: Ming-Hsui
authors.initials: MH
authors.lastname: Tsai
authors.forename: Hsien-Chang
authors.initials: HC
authors.lastname: Tseng
authors.forename: Cheng-Li
authors.initials: CL
authors.lastname: Wang
authors.forename: Chung-Hsing
authors.initials: CH
authors.lastname: Wang
authors.forename: Cheng-Nan
authors.initials: CN
authors.lastname: Wu
authors.forename: Cheng-Chieh
authors.initials: CC
authors.lastname: Lin
authors.forename: Da-Tian
authors.initials: DT
authors.lastname: Bau
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001114:Areca / Q000009:adverse effects; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D016022:Case-Control Studies; D004260:DNA Repair / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012907:Smoking / Q000009:adverse effects; D013624:Taiwan
chemical_list: D004268:DNA-Binding Proteins; C101467:XRCC4 protein, human