• PMID: 23822672
• Gene Name: ESR1
• Condition: Oligoasthenoteratozoospermia
• Association: The study concludes that as oestrogen is concerned in male gamete maturation, ER-? gene polymorphisms might play a role in the pathophysiology of male infertility.
• Mutation: ER-? gene PvuII and XbaI polymorphisms
• Population size: 141
• Population details: 141 (60 fertile men, 81oligoasthenoteratozoospermic (OAT) men )
• Sex: Male
• Infertility type: Male infertility
• Associated genes: ER-?
• Other associated phenotypes: Oligoasthenoteratozoospermia

Oestrogen receptor alpha gene polymorphisms relationship with semen variables in infertile men

Zalata A, Abdalla HA, El-Bayoumy Y, Mostafa T.

This study aimed to assess the association of oestrogen receptor alpha (ER-α) gene polymorphisms and semen variables in infertile oligoasthenoteratozoospermic (OAT) men. In all, 141 men were grouped into fertile men (n = 60) and infertile OAT men (n = 81). They were subjected to assessment of semen analysis, acrosin activity, serum reproductive hormones and genotyping of ER-α gene. Frequencies of p and x alleles in ER-α gene PvuII and XbaI polymorphisms were more prevalent among fertile men compared with infertile OAT men. Presence of P and X alleles was associated with increased incidence of male infertility for genotypes PP, XX compared with genotypes pp and xx (OR = 2.8; 95% CI: 2.36-6.97; P = 0.001 and OR = 4.1, 95% CI: 1.49-11.39; P = 0.001, respectively). The mean of semen variables and sperm acrosin activity were significantly higher in cases associated with pp than PP and in xx than XX genotypes of ER-α gene. Mean levels of all serum reproductive hormones demonstrated nonsignificant differences in different ER-α genotypes except oestrogen that was elevated in PP and XX ER-α gene genotypes. It is concluded that as oestrogen is concerned in male gamete maturation, ER-α gene polymorphisms might play a role in the pathophysiology of male infertility. CI - © 2013 Blackwell Verlag GmbH. FAU - Zalata, A AU - Zalata A AD - Department of Medical Biochemistry, Faculty of Medicine, Mansoura University, Mansoura, Egypt. FAU - Abdalla, H A AU - Abdalla HA FAU - El-Bayoumy, Y AU - El-Bayoumy Y