Combinational polymorphisms of four DNA repair genes XRCC1, XRCC2, XRCC3, and XRCC4 and their association with oral cancer in Taiwan

Ching Yu Yen, Shyun Yeu Liu, Chung Ho Chen, Hung Fu Tseng, Li Yeh Chuang, Cheng Hong Yang, Ying Chu Lin, Cheng Hao Wen, Wei Fan Chiang, Chang Hsuan Ho, Hsiang Chi Chen, Shaio Ting Wang, Cheng Wen Lin, Hsueh Wei Chang

Research output: Contribution to journalArticlepeer-review

118 Citations (Scopus)


Background: Many single nucleotide polymorphisms (SNPs) have been found to be associated with oral cancer but the biological interactions through SNPs are seldom addressed. In this study, we focused on the joint effect for SNP combinations of four DNA repair genes, X-ray repair cross-complementing groups (XRCCs) 1-4, involved in major cancer-related pathways. Methods: Single nucleotide polymorphism genotyping was determined using by polymerase chain reaction-restriction fragment length polymorphism in this study (case = 103, control = 98). Different numbers of combinational SNPs with genotypes called the pseudo-haplotypes from these chromosome-wide genes were used to evaluate their joint effect on oral cancer risk. Results: Except for XRCC2 rs2040639-AG, none of these SNPs was found to individually contribute to oral cancer risk. However, for two combined SNPs, the proportion of subjects with oral cancer was significantly higher in the pseudo-haplotype with AG-CC genotypes in rs2040639-rs861539 (XRCC2-XRCC3) compared with those with non-AG-CC genotypes. Similarly, the pseudo-haplotype of rs2040639-rs861539-rs2075685 (XRCC2-XRCC3-XRCC4) and rs2040639-rs861539-rs2075685-rs1799782 (XRCCs 1-4) with specific genotype pattern (AG-CC-TG and CT-AG-CC-TG) among three and four combinational SNPs were significantly associated with oral cancer. After controlling for age, gender, smoking, drinking, and betel nut chewing, the estimated odds ratio of oral cancer were 2.45, 5.03, and 10.10 for two, three and four specific SNP combinations, respectively, comparing these specific pseudo-haplotypes to their corresponding non-pseudo-haplotypes. Conclusion: We have identified the potential combined XRCCs 1-4 SNPs with genotypes that were associated with oral cancer risk and may have an impact on identification of a high-risk population.

Original languageEnglish
Pages (from-to)271-277
Number of pages7
JournalJournal of Oral Pathology and Medicine
Issue number5
Publication statusPublished - May 2008


  • DNA repair gene
  • Oral cancer
  • Polymorphism
  • Single nucleotide polymorphism combination
  • X-ray repair cross-complementing group

ASJC Scopus subject areas

  • Oral Surgery
  • Periodontics
  • Cancer Research
  • Pathology and Forensic Medicine
  • Otorhinolaryngology


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