Endométriose et génétique : les gènes sont-ils responsables de la maladie ?

B Borghese, Borghese B, Bruno Borghese, D Vaiman, Daniel Vaiman, D. de Ziegler, de Ziegler D, Dominique de Ziegler, Charles Chapron, C. Chapron, Chapron C
Journal de gynecologie, obstetrique et biologie de la reproduction · 2010 · vol. 39(3) , pp. 196–207 · doi:10.1016/j.jgyn.2010.03.006 · PMID:20399038 · W2083134073
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This paper explores the genetic underpinnings of endometriosis, investigating the potential role of genes in the development of the disease.

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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.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Drug Resistance Endometriosis Endometriosis Endometriosis Endometrium Endometrium Estrogens Estrogens Female Genetic Predisposition to Disease Homeodomain Proteins Homeodomain Proteins Humans Inflammation Polymorphism, Genetic Progesterone Receptors, Estrogen Receptors, Estrogen Receptors, Progesterone

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Cited by (12)

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