细胞周期蛋白E1基因rs1406(G/T)位点多态性与肝细胞癌高发家系遗传易感性的相关性  

Relationship between polymorphism at rs1406(G/T)locus of cyclin E1 gene and genetic susceptibility of hepatocellular carcinoma high-incidence family

作　　者：赵瑞强[1,2] 温燕[3] 廖燕[4] 谢裕安 ZHAO Ruiqiang;WEN Yan;LIAO Yan;XIE Yu′an(The School of Prechinical Medicine of Guangxi Medical University,Nanning 530021,Guangxi Province,China;Department of Experimental Research,the Affiliated Tumor Hospital of Guangxi Medical University,Nanning 530021,Guangxi Province,China;Department of Pharmacy,the First Affiliated Hospital of Guangxi Medical University,Nanning 530021,Guangxi Province,China;Department of Blood Transfusion,the Second People′S Hospital of Nanning City,Nanning 530031,Guangxi Province,China)

机构地区：[1]广西医科大学基础医学院,广西南宁530021 [2]广西医科大学附属肿瘤医院实验研究部,广西南宁530021 [3]广西医科大学第一附属医院药学部,广西南宁530021 [4]南宁市第二人民医院输血科,广西南宁530031

出　　处：《新乡医学院学报》2020年第4期337-341,346,共6页Journal of Xinxiang Medical University

基　　金：国家自然科学基金资助项目(编号:81260320);广西壮族自治区卫生厅自筹经费科研课题(编号:Z2014060);广西中医药民族医药自筹经费科研课题(编号:GZZC14-55)。

摘　　要：目的探讨细胞周期蛋白E1(CCNE1)基因rs1406(G/T)位点多态性与肝细胞癌高发家系遗传易感性的关系。方法选择2003年1月至2011年10月广西扶绥县壮族肝细胞癌高发地区20个肝细胞癌家系,包括肝细胞癌患者20例(A组)及其直系亲属59例(B组);另选10个生活在同一地区的正常家系(共40例)作为对照(C组)。各家系均符合Hardy-Weinberg遗传平衡,具有人群代表性。利用质谱方法检测CCNE1基因rs1406(G/T)位点基因型分布频率;采用PLINK软件分析各家系人群基因型分布频率差异。结果CCNE1基因rs1406(G/T)位点存在GG、TT、GT 3种基因型。A组GG基因型3例,TT基因型3例,GT基因型14例;B组GG基因型14例,TT基因型14例,GT基因型31例;C组GG基因型23例,TT基因型2例,GT基因型15例。A组与B组人群CCNE1 rs1406(G/T)位点上G、T分布频率比较差异无统计学意义(P>0.05)。A+B组与C组人群rs1406(G/T)等位基因G、T分布频率比较差异有统计学意义(比值比=3.639,95%可信区间:1.533~8.637,P<0.05)。结论CCNE1基因rs1406(T)为广西扶绥县壮族人群肝细胞癌发生的风险基因型。Objective To investigate the relationship between polymorphism at rs1406(G/T)locus of cyclin E1(CCNE1)gene and genetic susceptibility of hepatocellular carcinoma high-incidence family.Methods Twenty hepatocellular carcinoma families in high-incidence area of Zhuang people in Fusui county of Guangxi province were selected from January2003 to October 2011,including 20 hepatocellular carcinoma patients(group A)and 59 immediate family members of the patients(group B).Another 10 normal families including 40 healthy people who lived in the same area were selected as control(group C).All families were compatible with Hardy-Weinberg genetic equilibrium,and were representative of the population.The genotype distribution frequency of rs1406(G/T)locus in CCNE1 gene was detected by mass spectrometry.The differences in genotype distribution frequency among all families were analyzed by using PLINK software.Results There were three genotypes of GG,TT and GT in rs1406(G/T)locus of CCNE1 gene.There were 3 cases of GG genotype,3 cases of TT genotype and 14 cases of GT genotype in group A;there were 14 cases of GG genotype,14 cases of TT genotype and 31 cases of GT genotype in group B;and there were 23 cases of GG genotype,2 cases of TT genotype and 15 cases of GT genotype in group C.There was no significant difference in the distribution frequency of G and T alleles at rs1406(G/T)locus of CCNE1 gene between the group A and group B(P>0.05).There was significant difference in the distribution frequency of G and T alleles at rs1406(G/T)locus of CCNE1 gene between the group(A+B)and group C(odd ratio=3.639,95%confidence interval was 1.533-8.637,P<0.05).Conclusion The rs1406(T)of CCNE1 gene is the risk genotype for hepatocellular carcinoma in Zhuang people in Fusui County,Guangxi province.

关 键 词：肝细胞癌 细胞周期蛋白E1 单核苷酸多态性 遗传易感性 

分 类 号：R735.7[医药卫生—肿瘤]