Molecular analysis of SNP12 in estrogen receptor α gene in hypospadiac or cryptorchid patients from Northwestern China.

OBJECTIVE: To investigate the single nucleotide polymorphism 12 (SNP12) in the estrogen receptor α (ESR1) gene in hypospadiac or cryptorchid patients from Northwestern China. METHODS: 103 patients and 40 controls were analyzed for SNP12 to verify whether this genetic variant was associated with hypospadias or cryptorchidism. RESULTS: The frequencies of the A allele and homozygote individuals for the A allele of SNP12 in the hypospadiac group were higher than in the control group, respectively (p = 0.011, p = 0.005). The frequency of the A allele of SNP12 in the cryptorchid group was higher than in the control group (p = 0.038). However, no significant difference was observed between the cryptorchid group and control group of homozygote individuals for the A allele of SNP12 (p = 0.070). CONCLUSIONS: Our results suggested that the A allele of SNP12 may increase the risk of hypospadias or cryptorchidism.