ERα基因外显子1编码子10 SNP与尿道下裂及隐睾相关性分析

Single nucleotide polymorphism anlysis of estrogen receptor alpha gene in patients with hypospadias or crytorchidism

目的探讨雌激素受体α(ERα)基因外显子1编码子10单核苷酸遗传多态性(SNP)与尿道下裂及隐睾症发生的相关性。方法应用聚合酶链反应(PCR)分析的方法分别对70例尿道下裂患者、31例隐睾症患者和40例健康男性对照者基因组DNA进行ERα基因外显子1编码子10单核苷酸多态性基因检测并分型。结果尿道下裂组与正常对照组ERα基因编码子10基因型频率分布比较,差异具有统计学意义(P<0.05),两组等位基因频率分布的差异也具有统计学意义(P<0.05),变异型等位基因C频率显著升高,其OR值为1.911,95%CI为1.085～3.367。隐睾症患者与正常对照者ERα基因编码子10基因型频率分布比较,差异具有统计学意义(P<0.05),两组等位基因频率分布比较,差异具有统计学意义(P<0.05),变异型等位基因C频率显著升高,其OR值为2.407,95%CI为1.219～4.754。结论 ERα基因外显子1编码子10单核苷酸遗传多态性可能与尿道下裂和隐睾症的发生有关,变异型等位基因C可能是尿道下裂和隐睾症发生的危险因素。

Objective To explore the relationship between the Single nucleotide polymorphism （SNP） at codon 10 of exon 1 of ERa and patients with hypospadias or crytorchidism. Methods Different SNPs genotypes of ERa of 70 patients with hypospadias, 30 patients with Cryptorchidism and 40 healthy men controls were detected by polymerase chain reaction （PCR）. Results The frequency distribution of SNP at codon 10 of exon 1 of ERa in the patients with hypospadias was significantly different to that in the control group （P ≤0.05, P≤ 0.05）. The frequency of variant C of codon 10 of ERa in the patients with hypospadias was significantly higher than that of the control group （OR=1.911, 95%CI from 1.085 to 3.367）. The frequency distribution of genotype and allele gene of codon 10 of ERa in the patients with cryptorchidism was significantly different to that in the control group （P ≤ 0.05, P≤ 0.05）. The frequency of variant C of codon 10 of ERa in the patients with cryptorchidism was significantly higher than that in the control group （OR=2.407, 95%CI from 1.219 to 4.754）. Conclusion The SNP at codon 10 of exon 1 of ERa may be associated with development of hypospadias and cryptorchidism. The variant C allele genotype of codon 10 of ERa may be a potential risk factor for patients with hypospadias or cryptorchidism.