雌激素受体α基因SNP12多态性与尿道下裂及隐睾易感性

SNPs analysis of estrogen receptor α gene SNP12 in Chinese population:a susceptibility to hypospadias and crytorchidism

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 relationship of estrogen receptor a gene SNP12 polymorphism with cryptochidism and hypospadia in chinese population. Methods ESR1 SNP12 analysis was performed in 72 hypospadias patients 31 cryptorchidism patients and 40 control males. Genotyping was performed by the 5＇nuclease assay. Results The allelic frequency of variant genotype on ESR1 SNP12 in hypospadias patients and cryptorchidism patients were all significantly higher than that in control males （A%：hypospadias vs control, 50.7%vs31.3%, P=0.005,OR=2. 262 ; cryptorchidism vs control,48.4% vs 31.3%, P=0.038, OR= 2.063）. Conclusion The results suggested that the variant gene A of ESR1 SNP12 might be associated with the development of hypospadias and cryptorchidism.