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.