ABSTRACT
A significant proportion of infertile men with azoospermia and severe oligoazoospermia have a genetic etiology for their reproductive failure. Genetic analysis has major effects on finding the causes of infertility in last decade, but still in some cases, we still do not have clear answer for our patients. During last years it has become evident that endogenous estrogens and estrogen receptors [ER] play role in the regulation of testicular function. Present study was performed to evaluate the significance of RsaI and AluI single nucleotide polymorphism in the ER gene in infertile patients in comparison with normal fertile male control. From 120 infertile men referred to our center after ruling out all the known causes of the infertility such as chromosomal abnormalities, Y-chromosome microdeletion, and other pathologic disorders, 5 ml peripheral blood were obtained for DNA extraction. PCR amplification of the polymorphic region was carried out and after running the PCR products on 1.5% agarose gel, the frequency of the polymorphism were calculated. A 3 times higher frequency of the heterozygous RsaI genotype was found in men with low sperm concentration compared to control [P=0.003]. In contrast, the proportion of homozygous AluI genotype was only 1/3 in severely oligoazoospermic men in comparison with control [P=0.03]. Our results could suggest that ER and RsaI and AluI single nucleotide polymorphisms on this gene are important for spermatogenesis in humans, and could play an important role in the spermatogenesis process in males. Also it is possible to conclude that different conditions of infertility may not have genetic predisposition in common