survivin基因易感性及其单倍型与原发性肝细胞癌关系

李玉华; 王姣锋; 江峰; 林文尧; 沈福民; 孟炜

doi:10.11847/zgggws-2012-28-02-22

survivin基因易感性及其单倍型与原发性肝细胞癌关系

Association of survivin gene susceptibility and haplotype with hepatocellular carcinoma

摘要

摘要: 目的探讨汉族人群中存活素(survivin)基因rs8073069及rs1042489位点与原发性肝细胞癌(HCC)的相关性,为采取干预措施提供参考依据。方法采用病例对照研究方法对在江苏省海门市10个社区收集的176例汉族HCC病例和随机匹配的196名健康汉族人群进行一般情况问卷调查以及survivin基因rs8073069和rs1042489位点基因分型。结果 rs8073069位点CC、CG、GG基因型和C、G 2个等位基因在HCC病例组的频率分别为8.52%、35.22%、56.25%2、6.14%7、3.86%,在对照组的频率分别为6.12%3、9.80%、54.08%、26.02%7、3.98%,不同遗传模式下rs8073069位点基因型和等位基因分布在HCC病例组与对照组间分布差异均无统计学意义(P>0.05);rs1042489位点CC、CT、TT基因型和C、T 2个等位基因在HCC病例组的频率分别为17.61%、55.68%、26.70%、45.45%、54.55%,在对照组的频率频率为13.78%、52.04%、34.18%、39.80%、60.20%,不同遗传模式下rs1042489位点基因型及等位基因在HCC病例组与对照组间分布差异均无统计学意义(P>0.05);多因素Logistic回归分析结果表明,在相加遗传模式下,HBsAg+和有乙肝史是HCC的危险因素r,s8073069G-rs1042489T单倍型是HCC的保护因素;不同遗传模式下环境因素与单倍型交互作用分析结果表明,显性、隐性和相加遗传模式均未发现单倍型与环境因素的交互作用(P>0.05)。结论汉族人群survivin基因rs8073069和rs10424892位点多态性与HCC的易感性无关;rs8073069G-rs1042489T单倍型是HCC的保护单倍型。

Abstract: To explore the association of rs8073069 and rs1042489 in survivin gene with hepatocellular carcinoma(HCC)in Han population and to provide basis for effective protective measure. Methods Under the design of case-control study,176 Han HCC cases and 196 Han controls were selected in communities of Haimen city,Jiangsu province.Questionnaire survey on basic information was carried out and two loci of rs8073069 and rs1042489 from survivin gene were genotyped. Results The frequency of CC,CG,GG,C and G in rs8073069 was 8.52%,35.22%,56.25%,26.14%, and 73.86% in HCC group and 6.12%,39.80%,54.08%,26.02%,and 73.98% in the control group,respectively.In different genetic models,no statistically significant difference was found in genotype or allele distribution of HCC case group relative to the control group in rs8073069(P>0.05).In HCC group,the frequency of CC,CT,TT,C and T in rs1042489 was 17.61%,55.68%,26.70%,45.45%,and 54.55% and 13.78%,52.04%,34.18%,39.80%,and 60.20% in the control group,respectively.No statistically significant difference was found in rs1042489(P>0.05)either.Multivariate logistic regression indicated that HBsAg positive and the history of hepatitis B were risk factors for HCC.In addition,the haplotype of rs8073069G-rs1042489T was a protective factor for HCC in additive genetic model.However,no haplotype-environment interaction was found in different genetic models(P>0.05). Conclusion Neither rs8073069 nor rs10424892 in survivin gene is associated with the susceptibility of HCC in Han population,but rs9904341G-rs1042489T in survivin gene is a protective haplotype for HCC.

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