目的：探讨广西壮族自治区扶绥县肝癌高发地区壮族人群雌激素受体1基因（estrogen receptor1 gene， ESR1）单核苷酸多态性(single nucleotide polymorphism,SNP)与肝癌遗传易感性的关系。方法： 采用病例-对照研究和限制性片段长度聚合酶链反应（PCR-RFLP）方法，对扶绥县21个肝癌高发家系组共85例及同居住地10个正常对照家系组共39例进行 ESR1 基因型分布频率的检测；运用非条件Logistic回归分析基因多态性与肝癌发生危险性的关系，并将实验结果结合临床资料进行统计学分析。 结果： （1）经 ESR1 基因型检测分型，正常对照家系组人群携带AA、AG、GG基因型频率分别为74.36%、17.95%和7.69%；肝癌高发家系组人群携带AA、AG、GG基因型频率分别为83.53%、11.76%和4.71%；（2）基因型在两组人群中的分布符合 Hardy-Weinberg平衡定律；（3）正常对照家系组人群中AG、GG基因型个体罹患肝癌的风险率分别是AA基因型个体的0.218（95% CI =0.025~1917， P =0.170）和0.509（95% CI =0.049~5.260， P =0.571），肝癌高发家系组人群中非肝癌者AG、GG基因型的个体罹患肝癌的风险率分别是AA基因型个体的0.298（95% CI =0.035~2.515， P =0.233）和0.671（95% CI =0.070~6.391， P =0729），差异均无统计学意义。 结论： 广西扶绥县壮族人群中， ESR1 基因rs3798757位点SNP多态性与罹患肝癌无关。

Objective : To investigate the relationship between estrogen receptor 1 gene ( ER-1 ) single nucleotide polymorphism(SNP) and susceptibility to hepatocellular carcinoma (HCC) in liver cancer family pedigrees of Zhuang population in Fusui county of Guangxi. Methods: This was a case-control study involving 85 members of 21 HCC high incidence families and 39 members of 10 normal control families in Fusui County, Guangxi Province. Genotype frequencies and restriction fragment length polymorphisms of the ER-1 gene were determined by PCR. Correlation between the ER-1 gene polymorphisms and HCC risk was evaluated by non-conditional logistic regression analysis. Results: The frequencies of genotypes AA, AG, GG among the normal controls and HCC high incidence families was 74.36 vs 83.53%, 17.95 vs 11.76%, and 7 69 vs 4.71%, respectively. Age and sex distributions did not differ significantly between the two groups ( P >0.05) and genotype distributions conformed to Hardy-Weinberg equilibrium. In the normal control families, the risk of HCC for members with AG and GG was 0.218 (95% CI =0.025-1.917, P =0.170) and 0.509 (95% CI =0.049-5.260, P =0.571) times that of members with AA respectively. In the high HCC incidence families, the risk of HCC for members with AG and GG was respectively 0.298 (95% CI =0.035-2.515, P =0.266) and 0.671 (95% CI =0070-6391, P =0.729) times that of members with AA. Conclusion: There is no correlation between ESR1 gene rs3798757 polymorphism and susceptibility to HCC in families with high incidence of liver cancer in Fusui County of Guangxi Province.

国家自然科学基金资助项目No. 81260320）