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目的探讨我国江浙沪地区人群中DNA损伤修复基因XRCC1多态性与鼻咽癌易感性的关系。方法选取87例江浙沪地区汉族鼻咽癌患者,并随机选取同地区同种族的94例健康者作为对照,两组年龄、性别差异无统计学意义。采用限制性片段长度多态性聚合酶链反应(PCR-RFLP)方法分析研究对象的XRCC1基因Arg194Trp及Arg399Gln两个位点的基因多态性,并比较不同基因型与鼻咽癌发病之间的关系。结果 XRCC1Arg194Trp及Arg399Gln各基因型在鼻咽癌组和对照组间的分布频率基本相同。与携带Arg/Arg基因型者相比携带194位点Trp/Trp基因型者鼻咽癌的发生风险有所降低,但差异无统计学意义(OR=0.41,95%CI:0.08~1.65,P=0.21)。194位点其他基因型以及399位点各基因型对鼻咽癌的发病无明显影响。结论 XRCC1基因194和399位点的单核苷酸多态性可能与鼻咽癌的易感性无关,但194位点的Trp等位基因可能会降低鼻咽癌发病风险。
Objective To investigate the relationship between DNA damage repair gene XRCC1 polymorphism and susceptibility to nasopharyngeal carcinoma in Jiangsu, Zhejiang and Shanghai areas. Methods A total of 87 Chinese Han nationality NPC patients from Jiangsu, Zhejiang and Shanghai were enrolled. A total of 94 healthy subjects of the same race in the same region were randomly selected as controls. There was no significant difference in age and sex between the two groups. The gene polymorphisms of Arg194Trp and Arg399Gln of XRCC1 gene were analyzed by PCR-RFLP and compared between different genotypes and the incidence of nasopharyngeal carcinoma relationship. Results The frequencies of XRCC1Arg194Trp and Arg399Gln genotypes in NPC and control groups were almost the same. Compared with those carrying Arg / Arg genotype, the 194 patients with Trp / Trp genotype had a lower risk of NPC, but the difference was not statistically significant (OR = 0.41, 95% CI: 0.08-1.65, P = 0.21). 194 genotypes and 399 genotypes had no significant effect on the incidence of NPC. Conclusion Single nucleotide polymorphisms at 194 and 399 of XRCC1 gene may not be associated with susceptibility to NPC, but the 194 locus Trp allele may reduce the risk of NPC.