What is it about?

Male infertility is a multifactorial condition with a strong genetic component. In the last decade a large number of investigations focused on the identification of gene variants affecting spermatogenesis in human. Polymorphisms of the estrogen receptor (ER) genes, have been implicated in male infertility, however, comprehensive data are lacking. We investigated the association between the ER-α gene (ESR1) PvuII and XbaI and ER-β gene (ESR2) RsaI and Alul polymorphisms and the idiopathic male infertility.

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Why is it important?

The cause of infertility is shared equally between male and female partners. At least 30% of cases of male infertility are still not determine and are considered as idiopathic infertility. Estrogens can induce oxidative DNA damage. Oxidative DNA damage may be involved in estrogen induced effects on male reproduction. Estrogen excess during the adulthood can deteriorate sperm production and maturation. Estrogen acts both peripherally and in the central nervous system. The physiological responses to estrogens are modulated by the estrogen receptors alpha (ER-alpha, ER1) and beta (ER-beta, ER2) genes. ESR-alpha gene is located on chromosome 6q25 and is composed 8 exons separated by 7 intronic regions with a total size of 140 kb . The ER-beta gene resides on chromosome 14q22-24, comprises eight exons and spans approximately 40 kb. ER-alpha encodes a 595 amino acid protein , while ER beta encodes a 530 amino acid protein.


We found a significant inverse association between the ER-alpha Pvull CC, and ER-alpha XbaI AG polymorphism, and a significant positive association between the ER-beta RsaI GA, and ER-beta Alul AG polymorphisms and prevalent infertility in men. Carriers of the ER-alpha XbaI G allele had a 32% lower and carriers of ER-alpha XbaI A allele had a 1.72-fold higher prevalence of infertility. The mechanisms by which the ESR-beta, and ER-alpha genes might be related to infertility and semen parameters warrant further investigation.

Dr Mohammad Reza Safarinejad
University of Medical Sceices

Read the Original

This page is a summary of: Association of polymorphisms in the estrogen receptors alpha, and beta (ESR1, ESR2) with the occurrence of male infertility and semen parameters, The Journal of Steroid Biochemistry and Molecular Biology, October 2010, Elsevier, DOI: 10.1016/j.jsbmb.2010.06.011.
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