The Progesterone Receptor PROGINS Polymorphism Modifies The Estradiol To Progesterone Ratio And The Risk Of Endometriosis

Abstract

Endometriosis is a multifactorial steroid-dependent hereditary disease associated with chronic pain, inflammation and a high degree of disability. The condition is associated with high estrogen production and low progesterone levels. Genetic variations in both the estrogen and progesterone receptors are thought to contribute to the disease. Genetic investigations of both types of receptors have thus far produced mixed results. We have recently shown that endometriosis is associated with the ESR1 gene polymorphisms rs9340799 and rs2234693 and higher serum levels of estradiol. In the current study we extend these findings further by showing that these polymorphisms are associated with increased estradiol to progesterone ratio and increased risk of endometriosis, both of which are attenuated by the progesterone receptor PROGINS polymorphism.