Genetics and pharmacogenetics of estrogen response

Abstract

Estrogens are a steroid hormone group distributed widely in animals and human beings. Estrogens diffuse across cell phospholipidic membranes and interact with estrogen receptors. Their highest concentration is found in target tissues with reproductive function (breast, ovary, vagina and uterus). High estrogen levels are usually associated with tumor onset and progression, while loss of estrogen or its receptor(s) contributes to development and/or progression of various diseases (osteoporosis, neurodegenerative disease and cardiovascular disease). Despite the numerous efforts to highlight estrogen’s mechanism of action, recent discoveries showed an unexpected degree of complexity of estrogenic response.

Keywords::

• estrogen isoforms
• estrogen receptor
• estrogen response
• estrogen-related disease
• genetics
• pharmacogenetics
• polymorphism

Acknowledgement

Silvia Carbonell Sala and Valentina Martineti contributed equally to this work.