Yang Zhi-Hui, Dai Qiong, Kong Xiang-Li, Yang Wen-Li, Zhang Lin
Department of Pathology, Luzhou Medical College, Luzhou, Sichuan, China.
Department of Forensic Biology, College of Preclinical and Forensic Medicine, Sichuan University, Chengdu, China.
Mol Carcinog. 2009 Mar;48(3):196-201. doi: 10.1002/mc.20468.
The normal function of excision repair cross complementing group 1 (ERCC1) is essential for maintaining genomic integrity and preventing cellular neoplastic transformation, and multiple studies have reported an association between ERCC1 polymorphisms and increased risk of cancers. To test whether the genetic variants of ERCC1 gene modify the risk of nasopharyngeal carcinoma (NPC), we compared the 8092 C > A and 19007 C > T single nucleotide polymorphisms (SNPs) and the haplotypes of ERCC1 between 267 patients with NPC and 304 healthy controls. Linkage disequilibrium was observed between the two SNPs loci (D' = 0.861). Significant differences of allele frequencies were found for ERCC1 8092C > A between the cases and controls. Individuals with 8092 C allele showed 1.411-fold (OR = 1.411, 95% CI, 1.076-1.850, P = 0.014) increased risk of developing NPC, and the CC haplotype was associated with a significantly increased risk of NPC (OR = 1.712; 95% CI, 1.211-2.421; P = 0.013). No interactions were found between 8092C > A polymorphism and genders, smoking status and alcohol consumption. These results suggested that the polymorphism of ERCC1 8092 C > A might be a contributing factor in the development of NPC in Chinese population.
切除修复交叉互补基因1（ERCC1）的正常功能对于维持基因组完整性和预防细胞肿瘤转化至关重要，并且多项研究报道了ERCC1基因多态性与癌症风险增加之间的关联。为了测试ERCC1基因的遗传变异是否会改变鼻咽癌（NPC）的风险，我们比较了267例NPC患者和304例健康对照者之间ERCC1的8092 C>A和19007 C>T单核苷酸多态性（SNP）以及单倍型。在两个SNP位点之间观察到连锁不平衡（D'=0.861）。病例组和对照组之间ERCC1 8092C>A的等位基因频率存在显著差异。携带8092 C等位基因的个体患NPC的风险增加了1.411倍（OR=1.411，95%CI，1.076-1.850，P=0.014），并且CC单倍型与NPC风险显著增加相关（OR=1.712；95%CI，1.211-2.421；P=0.013）。未发现8092C>A多态性与性别、吸烟状况和饮酒之间存在相互作用。这些结果表明，ERCC1 8092 C>A多态性可能是中国人群NPC发生的一个促成因素。
