• PMID: 21934279
• Gene Name: ESR1
• Condition: Hypospadiac or cryptorchid patients
• Association: The results suggested that the A allele of SNP12 may increase the risk of hypospadias or cryptorchidism.
• Mutation: SNP12 in ER ? gene
• Population size: 143
• Population details: 143 (103 patients and 40 controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Male infertility

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

Tang KF, Zheng JZ, Xing JP.

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. CI - Copyright © 2011 S. Karger AG, Basel. FAU - Tang, Kai-Fa AU - Tang KF AD - Department of Urology, The First Affiliated Hospital, School of Medicine, Xi'an Jiaotong University, Xi'an, PR China. FAU - Zheng, Jian-Zhong AU - Zheng JZ