【摘要】 目的:探讨雌激素受体α基因PvuII和XbaI位点的单核苷酸多态性与良性前列腺增生(BPH)发病风险的关系。方法:收集112例BPH患者和111例健康对照人群的外周血标本,应用PCR-RFLP技术分析雌激素受体α基因PvuII和XbaI的单核苷酸变异,采用非条件logistic回归分析和计算其基因型和等位基因频率。结果:PvuII和XbaI位点基因型符合Hardy-Weinberg平衡检验;PvuII位点以杂合子基因型Pp占多数(占44.84%),基因型PP最少(占14.35%);XbaI位点以纯合子基因型xx为主,为64.13%;XX最少,为4.48%;比较PvuII和XbaI位点的基因型和等位基因在BPH患者和健康对照中的分布频率,差异均无显著性(P>0.05);雌激素受体α基因PvuII与XbaI位点间具有较强的连锁不平衡效应(D’=0.958,r2=0.398)。单体型分析显示pX在BPH患者中的分布显著高于健康对照人群(P=0.032108,OR=6.394,95%CI:0.919～44.517),提示单体型pX是BPH发生的易感因素。结论:雌激素受体α基因的单核苷酸多态性与前列腺增生发病存在一定的相关性。更多还原

【Abstract】 Objective:To investigate and explore the relationship between estrogen receptor α(ESR α) gene polymorphisms and the susceptibility of benign prostatic hypertrophy(BPH).Methods:The polymorphisms of ESRα gene were genotyped by PCR-RFLP in 112 BPH patients and 111 healthy male controls.The genotype and allelic frequencies were calculated and analyzed with unconditional logistic regression.Results:The frequency distribution of PvuII and XbaI genotypes accorded with the Hardy-Weinberg equilibrium test(P >0.05).The frequency of PvuII heterozygous genotype‘Pp’was for 44.84% and‘PP’for 14.35%;the frequency of XbaI homozygous genotype‘xx’ and‘XX’ was for 64.3% and 4.48%r,espectively.There was no significant difference in the genotype and allelic frequencies of PvuII and XbaI in the BPH cases compared with healthy controls,but significant difference for haplotype pX(P =0.032108,OR=6.394,95%CI:0.919～44.517),suggesting haplotype pX might be a risk factor of BPH.Conclusion:The polymorphisms of mononucleotide of estrogen receptor α gene may be associated with the morbidity BPH.更多还原