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目的探讨雌激素受体α基因(ESR1)SNP12(A/G)多态性与尿道下裂及隐睾症发生的相关性。方法采用PCR及基因测序技术,分别对72例男性尿道下裂患者、31例隐睾患者和40例健康男性儿童外周血基因组DNA ESR1 SNP12(rs6932902)位点的基因多态性进行分析,并与日本、意大利人群比较。结果尿道下裂组及隐睾组ESR1 SNP12A基因频率均分别高于对照组,差异有统计学意义(出现A等位基因频率,尿道下裂组Vs对照组:50.7%Vs 31.3%,P=0.005,OR=2.262;隐睾组Vs对照组:48.4%vs31.3%,P=0.038,OR=2.063)。结论 ESR1 SNP12 A等位基因可能为发生尿道下裂及隐睾的易感因素,ESR1含SNP12A可能使ERα的信号传导增强,增强了外源性雌激素的雌激素效应,从而使部分个体更容易发生尿道下裂及隐睾。
Objective To investigate the association between estrogen receptor alpha gene (ESR1) SNP12 (A / G) polymorphism and hypospadias and cryptorchidism. Methods The gene polymorphisms of ESR1 SNP12 (rs6932902) in peripheral blood DNA from 72 cases of hypospadias, 31 cases of cryptorchidism and 40 healthy male children were analyzed by PCR and gene sequencing. Japan, Italy population comparison. Results The frequencies of ESR1 SNP12A gene in hypospadias group and cryptorchidism group were significantly higher than those in control group (P <0.05). The frequency of allele A was significantly higher in hypospadia group than in control group (50.7% vs 31.3%, P = 0.005) , OR = 2.262; Vs of cryptorchidism group: 48.4% vs31.3%, P = 0.038, OR = 2.063). Conclusions ESR1 SNP12 A allele may be a predisposing factor to hypospadias and cryptorchidism. ESR1 containing SNP12A may enhance the signal transduction of ERα and enhance the estrogen effect of exogenous estrogen, thus making it easier for some individuals Hypospadias and cryptorchidism occur.