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

Abstract

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.

Polymorphisms in inhibin α gene promoter associated with male infertility

“…Numerous mutations and polymorphisms of genes regulating reproductive functions, such as estrogen receptor alpha (Zalata et al, 2014), androgen receptor (Agarwal et al, 2014), and LH (Ramanujam et al, 2000), are associated with human sperm quality. In adult testes, Leydig and Sertoli cells express inhibin-α subunit and show positive immunostaining for INHA (Marchetti et al, 2003).…”

Polymorphisms in estrogen receptors predict the risk of male infertility: a meta-analysis

“…A total of 10 eligible case control studies with the publication dates ranged from 2002 to 2013 met the prespecified inclusion criteria (shown in the Figure  1), including five studies of Asian population [19–21, 23, 24] and five studies of Caucasian population [5, 7, 22, 25, 26]. To determine the SNPs, two different genotyping methods such as PCR-RFLP [5, 19–26] and TaqMan assays [7] were applied.…”

“…To determine the SNPs, two different genotyping methods such as PCR-RFLP [5, 19–26] and TaqMan assays [7] were applied. All subjects were received comprehensive andrological examination, and the patients were divided into three types: oligozoospermia (sperm count <20 × 10 6 /mL), azoospermia and oligoasthenoteratozoospermic (OAT).…”

“…Approximately 15% of male infertile cases, genetic factors, including chromosomal aberrations and single gene mutations, may result in spermatogenic failure and sperm dysfunction [3, 4]. The traditional view of estradiol as the ‘female’ hormone and of testosterone as the ‘male’ hormone has been challenged due to the increased interest in elucidating the role of estrogen in males [5]. Estrogens are produced in the male reproductive system by Sertoli cells, Leydig cells, and germ cells [6, 7].…”

“…To date, epidemiological studies have been carried out to evaluate the association between ER polymorphisms and male infertility. However, the results remain inconsistent (Table  1) [5, 7, 19–26]. In order to get a more precise estimation of the association between polymorphisms in ERs and risk of male infertility, this meta-analysis was performed based on ten eligible previously published studies.…”