宁夏汉族人群p21^(WAF1/CIP1)基因codon31多态性与食管癌的关联研究  

Association study of polymorphisms of p21^(WAF1/CIP1) to esophageal cancer in Ningxia Han population

作　　者：齐奇[1] 梁寒梅[2] 章恒[1,3] 吕怀盛[4] 陈志强[5] 叶晓锋[3] 贾伟[6] 裴秀英[2] 高平[3] 张艳丽[7] 杨文君[1,2,8] 

机构地区：[1]宁夏医科大学基础学院生物技术系,银川750004 [2]宁夏医科大学基础学院科技中心,银川750004 [3]宁夏医科大学总医院肿瘤外科 [4]宁夏医科大学总医院病理科 [5]宁夏医科大学总医院放射科 [6]宁夏医科大学总医院检验科 [7]宁夏医科大学基础学院病原生物学与医学免疫学系,银川750004 [8]宁夏医科大学基础学院生育力保持重点实验室,银川750004

出　　处：《中华临床医师杂志（电子版）》2012年第17期5153-5157,共5页Chinese Journal of Clinicians(Electronic Edition)

基　　金：国家自然科学基金(30860320;81160249;81160252;30960108);宁夏自然科学基金(NZ0880;NZ11100);宁夏卫生厅重点科研计划课题(W2006477)

摘　　要：目的拟探究p53基因信号通路下游的p21WAF1/CIP1基因编码区第31位密码子(codon31)多态性和吸烟、饮酒等环境因素与宁夏汉族食管癌易感性的关系。方法收集宁夏地区80例汉族食管癌患者和200例汉族正常人外周血液样本。提取基因组DNA,PCR后直接测序检测SNP位点。以χ2检验分析单个SNP基因型和等位基因频率在病例组和对照组的分布;应用非条件Logistic回归模型分析p21WAF1/CIP基因SNP位点与环境因素对食管癌危险程度的影响,计算OR值和95%置信区间。结果 (1)食管癌组80例患者中吸烟和饮酒者分别为44例(55.00%)和23例(28.75%),高于对照组200例健康人的53例(26.5%)和29例(14.50%),两组间分布有统计学差异(P<0.05);(2)p21WAF1/CIP1codon31有三种基因型:纯合Arg/Arg、杂合Arg/Ser和纯合Ser/Ser,其中Ser/Ser纯合基因型在食管癌组与对照组中的分布有统计学差异(35.00%vs.21.00%,P<0.05),而且Ser/Ser纯合基因型可以显著增加食管癌的患病风险(OR=2.170,95%CI=1.180～3.992,P<0.05)。(3)Ser/Ser纯合基因型与饮酒的交互作用能显著提高食管癌的发病风险(OR=5.505,95%CI=2.044～14.830,P<0.05)。结论本研究发现p21WAF1/CIP1 codon31的Ser/Ser纯和基因型可能与宁夏汉族人群食管癌的发生相关,吸烟和饮酒可能是宁夏汉族人群食管癌高发的危险因素之一。p21WAF1/CIP1codon31三种基因型与饮酒对食管癌的发病均有正相加交互作用,其中尤以Ser/Ser纯合体基因型和饮酒的交互作用对食管癌的发病有更加显著的影响。Objective To investigate the potential association between p21WAF1/CIP1codon31 polymorphism and the susceptibility of esophageal cancer(EC)in Ningxia Han population.Methods This study involved 80 EC patients and 200 cancer-free controls from Ningxia Region.After extraction of genome DNA,the SNPs were detected by PCR-directed gene sequencing method.The distribution of genotypes and allele frequencies of codon31 in case and control groups were analyzed by χ2 test and the correlation between p21WAF1/CIP1 codon31 and the risk of EC were analyzed by unconditional logistic regression model.Results(1)Smoking and drinking could increase the risk of EC(OR=3.222,95% CI=1.860-5.580,P<0.05;OR=2.215,95% CI=1.139-5.829,P<0.05).(2)There are three genotypes of p21WAF1/CIP1 codon31:homozygous Ser,Heterozygous Arg/Ser and homozygous Arg.The expression of Ser/Ser homozygote genotype had significant differences between the EC group and the control group(35.00% vs.21.00%,P<0.05).Ser/Ser homozygote could increase the risk of EC(OR=2.170,95% CI=1.180-3.992,P<0.05).(3)The interaction of drinking and Ser/Ser homozygote genotype could increase the risk of EC(OR=5.505,95% CI=2.044-14.830,P<0.05).Conclusions Our findings indicated that codon 31 Ser allele homozygosity may be associated with development of EC.The interaction of drinking and Ser/Ser homozygote genotype could increase the risk of esophageal cancer.

关 键 词：食管肿瘤 多态性 单核苷酸 宁夏[回族自治区] P21基因 

分 类 号：R735.1[医药卫生—肿瘤]