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目的检测单核苷酸多态性(SNP)位点Arg399Gln在散发性结直肠癌患者和非癌对照组中的分布情况,分析其与散发性结直肠癌及其临床病理特征的相关性。方法从178例肿瘤组织和非癌对照组的180例血样中提取DNA,采用Taqman探针技术检测Arg399Gln多态性表型,并用统计软件计算各基因型的比值比(OR)和95%可信区间(95%CI)。结果肿瘤组与对照组就XRCC1 Arg399Gln多态性的基因表型差异有统计学意义(P<0.05);年龄不超过60岁的患者和超过60岁的患者在该位点的基因型差异有统计学意义(P<0.05);以399Arg/Arg基因型为参照,在年龄超过50岁的人群中(OR=0.64,95% CI 0.50～0.83,P<0.05)和男性人群中(OR=0.64,95% CI 0.51～0.79,P<0.05)携带至少一个Gln等位基因可致罹患散发性结直肠癌的风险显著降低;XRCC1 399SNP与患者性别及散发性结直肠癌的发生部位、Dukes分期、浸润深度、淋巴结转移以及病理分型均无显著相关性(P均>0.05)。结论XRCC1 399SNP可能通过改变DNA的损伤修复功能,成为散发性结直肠癌的易感因素。
Objective To detect the distribution of single nucleotide polymorphism (SNP) site Arg399Gln in sporadic colorectal cancer patients and non-cancer control group and analyze its correlation with sporadic colorectal cancer and its clinicopathological features. METHODS: DNA was extracted from 180 blood samples from 178 tumor-bearing and non-cancerous controls. The Arg399Gln polymorphism phenotype was detected by Taqman probe and the odds ratio (OR) and 95% confidence of each genotype were calculated using statistical software Interval (95% CI). Results The genotypes of XRCC1 Arg399Gln polymorphism in the tumor group and the control group were statistically different (P <0.05). There were statistical differences in genotypes between the patients aged 60 years and over 60 years (OR = 0.64, 95% CI 0.50-0.83, P <0.05) and the male population (OR = 0.64, P <0.05). The 399Arg / 95% CI 0.51-0.79, P <0.05). The risk of sporadic colorectal cancer was significantly lower with at least one Gln allele. The incidence of XRCC1 399 SNP correlated with the gender, sporadic colorectal cancer location, Dukes stage, infiltration Depth, lymph node metastasis and pathological type were not significantly correlated (P> 0.05). Conclusion XRCC1 399 SNP may be a susceptible factor for sporadic colorectal cancer by changing the DNA damage repair function.