Zalata A, Abdalla H A, El-Bayoumy Y, Mostafa T
Department of Medical Biochemistry, Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Andrologia. 2014 Aug;46(6):618-24. doi: 10.1111/and.12123. Epub 2013 Jul 3.
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.
本研究旨在评估雌激素受体α（ER-α）基因多态性与不育少弱畸精子症（OAT）男性精液变量之间的关联。总共141名男性被分为生育男性组（n = 60）和不育OAT男性组（n = 81）。对他们进行了精液分析、顶体酶活性、血清生殖激素评估以及ER-α基因的基因分型。与不育OAT男性相比，ER-α基因PvuII和XbaI多态性中p和x等位基因的频率在生育男性中更为普遍。与pp和xx基因型相比，PP、XX基因型中P和X等位基因的存在与男性不育发生率增加相关（OR = 2.8；95%CI：2.36 - 6.97；P = 0.001和OR = 4.1，95%CI：1.49 - 11.39；P = 0.001）。与ER-α基因PP基因型相比，pp基因型以及与XX基因型相比，xx基因型相关病例的精液变量均值和精子顶体酶活性显著更高。除雌激素在PP和XX ER-α基因基因型中升高外，所有血清生殖激素的平均水平在不同ER-α基因型中无显著差异。结论是，鉴于雌激素与男性配子成熟有关，ER-α基因多态性可能在男性不育的病理生理学中起作用。
