【摘要】 目的研究共济失调毛细血管扩张征突变(ATM)基因rs664982位点单核苷酸多态性与患食管癌易感性之间的关系。方法采用测序技术对183例食管癌患者(食管癌组)及125例体检健康者(对照组)进行ATM基因单核苷酸多态性分型检测;应用非条件Logistic回归统计分析ATMrs664982单核苷酸多态性与食管癌的相关性;利用SHEsis软件分析rs664982和rs664143连锁不平衡性及其单体型与疾病的相关性。结果食管癌组吸烟者及有肿瘤家族史者所占比例高于对照组(P<0.05);ATMrs664982基因型与性别、年龄、饮酒在食管癌组与对照组相比无统计学差异(P>0.05),ATMrs664982基因型与吸烟、肿瘤家族史在食管癌组与对照组相比有统计学差异(P<0.05);与基因型C/C比较,T/T基因型可增加食管癌发病风险,C/T基因型可降低发病风险;rs664982和rs664143没有强的连锁不平衡性。结论不同种族人群存在不同的ATM基因多态性,这可能是导致不同种族人群食管癌发病率和临床表现存在显著不同的因素之一。更多还原

【Abstract】 Objective To explore the correlation between the single nucleotide polymorphisms(SNPs) of rs664982 site in ATM gene and susceptibility to esophageal cancer. Methods SNPs genotyping of ATM gene was analyzed in 183 patients with esophageal cancer(esophageal cancer group) and 125 patients without esophageal cancer(control group) by using sequencing technology. The correlation between ATM rs664982 SNPs and esophageal cancer was analyzed with non-conditional Logistic regression analysis. Rs664982 and rs664143 locus linkage disequilibrium and haplotype association with disease were analyzed by SHEsis software. Results The proportion of smokers and subjects with tumor family history was statistically different between the two groups(P<0.05). ATM rs664982 genotype in gender, age, alcohol consumption was not statistical different between the two groups(P>0.05),but in smoking and family history of cancer was statistically different(P<0.05). Compared with genotype C/C, T/T genotype might increase the onset risk of esophageal cancer, C/T genotype might reduce the onset risk. Rs664982 and rs664143 were without strong linkage disequilibrium.Conclusion ATM gene polymorphisms could be with difference between various ethnic groups, which might be be one of the reasons that lead to different incidence and clinical manifestations of esophageal cancer in different racial.更多还原