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

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Title:	Combinational polymorphisms of four DNA repair genes XRCC1, XRCC2, XRCC3, and XRCC4 and their association with oral cancer in Taiwan
Authors:	(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);林振文(Lin Cheng Wen);張學偉(Hsueh-Wei Chang)
Contributors:	健康照護學院醫學檢驗生物技術學系;中國附醫檢驗醫學部
Keywords:	DNA repair gene;oral cancer;polymorphism;single nucleotide polymorphism combination;X-ray repair cross-complementing group
Date:	2008-05
Issue Date:	2009-08-26 16:00:31 (UTC+8)
Abstract:	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.
Relation:	JOURNAL OF ORAL PATHOLOGY & MEDICINE 37(5)271~277
Appears in Collections:	[Department of Medical Laboratory Science and Biotechnology ] Journal articles

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