title: [Endometriosis and genetics: what responsibility for the genes?].
abstract: Endometriosis is a very frequent and debilitating disease responsible for a considerable socio-economic toll. In spite of that, its pathogenesis remains enigmatic. Endometriosis is hold for a multifactorial pathology resulting from the mixed effects of environmental and genetic factors. To date, few susceptibility factors have been reported, with the exception of some polymorphisms in estrogen and progesterone receptors. Large-scale expressional studies have clearly demonstrated that endometriosis is a hormone-dependant disease, characterized by three main features: (i) inflammation, (ii) excessive production of estrogens, and (iii) progesterone resistance. Endometriosis is also considered as a benign metastatic disease, closely linked to cancer. However, the risk of malignant transformation appears to be very limited, likely by a systematic repression of the genes involved in cell cycle and a specific regulation of the HOX genes. Lastly, endometriosis might result from abnormalities of the eutopic endometrium, which show the same molecular alterations than the ectopic endometrium, to a lesser extent however. These alterations, possibly occurring during the embryonic life through epigenetic and genetic predisposition, could lead to an earlier and non-invasive diagnosis for endometriosis.
authors.affiliation: Service de gynécologie obstétrique 2 et médecine de la reproduction, centre hospitalier universitaire Cochin-Saint-Vincent-de-Paul, groupe hospitalier universitaire Ouest, AP-HP, université Paris Descartes, 74-82, avenue Denfert-Rochereau, 75014 Paris, France. bruno.borghese@inserm.fr
authors.forename: B
authors.initials: B
authors.lastname: Borghese
authors.forename: D
authors.initials: D
authors.lastname: Vaiman
authors.forename: D
authors.initials: D
authors.lastname: de Ziegler
authors.forename: C
authors.initials: C
authors.lastname: Chapron
mesh_terms: D004351:Drug Resistance; D004715:Endometriosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D004717:Endometrium / Q000473:pathology; D004967:Estrogens / Q000096:biosynthesis; D005260:Female; D020022:Genetic Predisposition to Disease; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007249:Inflammation; D011110:Polymorphism, Genetic; D011374:Progesterone; D011960:Receptors, Estrogen / Q000235:genetics; D011980:Receptors, Progesterone / Q000235:genetics; D018433:Twin Studies as Topic; D014429:Twins, Dizygotic; D014430:Twins, Monozygotic
chemical_list: D004967:Estrogens; D018398:Homeodomain Proteins; D011960:Receptors, Estrogen; D011980:Receptors, Progesterone; D011374:Progesterone