【作者】 李玉华； 王姣锋； 江峰； 林文尧； 任江萍； 沈福民； 孟炜；

【Author】 LI Yu-hua,WANG Jiao-feng,JIANG Feng,LIN Wen-yao,REN Jiang-ping,SHEN Fu-min~1,MENG Wei~1 1.Department of Epidemiology,School of Public Health,Fudan University, Key Laboratory of Public Health Safety,Ministry of Education,Shanghai 200032,China;2.Haimen Center for Disease Control and Prevention,Haimen 226100,China

【机构】 复旦大学公共卫生学院流行病学教研室,教育部公共卫生安全重点实验室； 海门市疾病预防控制中心；

【摘要】 目的探讨华东汉族人群中存活素(survivin)基因与原发性肝细胞癌(hepatocellular carcinoma,HCC)的相关性。方法采用病例对照研究,在江苏省海门市收集176例HCC病例和196例对照。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对survivin基因的rs9904341、rs10424891两个位点进行基因分型,在不同的遗传模式下分别分析rs9904341及rs10424891两个位点的基因型、单倍型与HCC的关系。结果在不同的遗传模式下,rs9904341及rs1042489两个位点的基因型分布在HCC病例组与对照组间的差异均无统计学意义(P>0.05)。连锁不平衡(LD)分析发现rs9904341、rs1042489两个位点存在LD(x~2=4.777,P=0.029),HCC病例组及对照组中两个位点的连锁不平衡常数D’分别为0.188、0.183。通过多因素Logistic回归分别在不同的遗传模式下进行单倍型分析,根据赤池信息量准则(Akaike’s Information Criteria,AIC)值最小原则筛选出隐性遗传模式下的模型为最优模型,控制吸烟、饮酒等因素后,以不具有C-T单倍型为参照,具有C-T单倍型者,其HCC的发病风险下降(OR=0.48,P=0.036),未发现其它与HCC有关的单倍型;多因素分析还发现吸烟、HBsAg+、乙肝史均为HCC的危险因素,但未发现单倍型与环境因素的交互作用。结论在华东汉族人群中,未发现survivin基因的rs9904341及rs1042489单核苷酸多态性与HCC的发病有关,但rs9904341C-rs1042489T可能是HCC的保护单倍型。更多还原

【Abstract】 Objective To explore the association of survivin gene with hepatocellular carcinoma (HCC) in East Chinese Han population.Methods Under the design of a case-control study,176 HCC cases and 196 controls were gathered in Jiangsu Haimen.Two loci of rs1042489 and rs9904341 in survivin gene were genetyped by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique,and association analysis of the genetypes and haplotypes for the two loci with HCC was concluded under different genetic models.Results There was found no statistically significant difference in genetype distribution of HCC case group relative to the control group under different genetic models in either rs9904341 or rs1042489(P>0.05).Linkage disequilibrium(LD) analysis revealed that the two loci were in LD(x~2=4.777,P=0.029),with the D’ value being equal to 0.188 and 0.183 in cases and controls,respectively.The recessive genetic model was screened as the optimal model by multivariate Logistic regression,according to the lowest value of Akaike’s Information Criteria(AIC). With no C-T haplotype as reference,the haplotype of C-T from two loci was associated with a lower risk for HCC under the recessive genetic model(OR=0.48,P=0.036),none of the other statistically significant haplotypes was found.It also indicated that smoking,HBsAg+,hepatitis B were risk factors for HCC,but without haplotype-environment interaction.Conclusions We don’t find the association of rs9904341or rs1042489 in survivin gene with HCC in East Chinese Han population,but rs9904341C-rs1042489T is perhaps a protective haplotype for HCC.更多还原