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目的探讨中国北方人群中人核黄素转运蛋白RFT2基因中1246A>G位点单核苷酸多态性(SNP)与食管鳞癌(ESCC)遗传易感性的关系。方法提取240例食管癌患者和198例正常对照人群全血基因组DNA,扩增目的片段后直接测序,分析RFT2基因的SNP1246A>G位点的基因型频率及其与食管癌的易感性关系。结果饮酒史、家族史和体重指数等因素与食管癌发生相关。食管癌组和正常对照组RFT2 SNP1246A>G位点在基因型A/A(82.9%比72.2%)、A/G和G/G(17.1%比27.8%)的分布频率上差异有统计学意义(χ2=7.97,P=0.019)。对1246A>G位点分析显示,与A/A相比,A/G和G/G基因型显著降低食管癌发生率(OR=0.53,95%CI:0.34~0.84)。结论 RFT2基因功能区SNP1246A>G位点与食管癌的遗传易感性相关。
Objective To investigate the association between the single nucleotide polymorphism (SNP) of 1246A> G in human riboflavin transporter RFT2 gene and the susceptibility to esophageal squamous cell carcinoma (ESCC) in northern Chinese population. Methods Whole blood genomic DNA was extracted from 240 esophageal cancer patients and 198 normal controls. The amplified fragments were directly sequenced, and the genotype frequency of SNP1246A> G loci in RFT2 gene and its relationship with susceptibility to esophageal cancer were analyzed. Results Alcohol drinking history, family history and body mass index were correlated with the occurrence of esophageal cancer. The frequencies of RFT2 SNP1246A> G locus in esophageal cancer group and normal control group were statistically different between genotype A / A (82.9% vs. 72.2%) and A / G and G / G (17.1% vs. 27.8%) (χ2 = 7.97, P = 0.019). Analysis of the 1246A> G locus showed that A / G and G / G genotypes significantly reduced the incidence of esophageal cancer compared with A / A (OR = 0.53, 95% CI: 0.34-0.84). Conclusion SNP1246A> G in RFT2 gene functional region is associated with genetic susceptibility to esophageal cancer.