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目的探讨食管鳞状细胞癌(esophageal squamous cell carcinoma,ESCC)C20orf54基因多态性rs13042395位点与吸烟、饮酒、体质量指数的相关性。方法选取7 673例患者和11 013例正常者C20orf54基因多态性rs13042395位点基因分型资料(基因分型采用sequenom芯片)。比较各组间基因型和等位基因频率的分布。结果病例组与对照组间C20orf54基因多态性rs13042395位点基因型和等位基因频率分布,差异具有统计学意义(P<0.05),C20orf54T等位基因降低ESCC患病风险(P=1.21E-11,OR=0.86,95%CI=0.82～0.90)。C20orf54基因多态性位点rs13042395在吸烟/不吸烟、饮酒/不饮酒及各级BMI人群中未观察到与ESCC的相关性。结论 C20orf54基因多态性、rs13042395遗传多态性与ESCC的易感性相关,与吸烟、饮酒、体质量指数无明显相关性。
Objective To investigate the association of rs13042395 polymorphism of C20orf54 gene with smoking, drinking, body mass index in esophageal squamous cell carcinoma (ESCC). Methods Genotyping data of rs13042395 polymorphism of C20orf54 gene in 7 673 patients and 11 013 healthy controls were genotyped using sequenom chip. The distribution of genotypes and allele frequency between groups was compared. Results There was a statistically significant difference in genotype and allele frequencies of rs20304395 between the case group and the control group (P <0.05). The C20orf54T allele decreased the risk of ESCC (P = 1.21E- 11, OR = 0.86, 95% CI = 0.82-0.90). C20orf54 gene polymorphism rs13042395 No association with ESCC was observed in smoking / non-smoking, drinking / non-alcohol drinking, and in all BMI populations. Conclusion C20orf54 gene polymorphism, rs13042395 genetic polymorphism and ESCC susceptibility related to smoking, drinking, body mass index no significant correlation.