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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 Guangxi Zhuang Fusui high incidence of liver cancer and liver cancer genetic susceptibility crowd of estrogen receptor 1 gene single nucleotide polymorphisms (estrogen receptor1 gene, ESR1) (single nucleotide polymorphism, SNP). Methods: A total of 85 cases of 21 HCC cases in Fusui County and 39 cases of the same family with 10 normal controls were studied by case-control study and restriction fragment length PCR (PCR-RFLP) ESR1 genotype frequency distribution; use of unconditional Logistic regression analysis of gene polymorphisms and the risk of liver cancer, and the experimental results combined with clinical data for statistical analysis. Results: (1) ESR1 genotyping typing by normal control group of people carrying families AA, AG, GG genotype frequencies of 74.36%, 17.95% and 7.69%, respectively; Liver Cancer pedigrees group of people carrying AA, AG, GG genotype frequencies were 83.53%, 11.76% and 4.71%; the distribution of (2) two groups of genotypes comply with Hardy-Weinberg equilibrium law; (3) normal control group family population AG, GG genotype liver cancer Risk group were 0.218 (95% CI = 0.025-1.917, P = 0.170) and 0.509 (95% CI = 0.049-5.260, P = 0.571) in individuals with AA genotype, The risk of liver cancer in AG and GG genotypes were 0.298 (95% CI = 0.035-2.515, P = 0.233) and 0.671 (95% CI = 0.070-6.391, P = 0.729) No statistical significance. Conclusion: SNP polymorphism of rs3798757 in ESR1 gene in Zhuang nationality of Fusui County in Guangxi Province has nothing to do with the occurrence of liver cancer.