title: Recent insights on the genetics and epigenetics of endometriosis.
abstract: Endometriosis is a gynecologic disease affecting up to 10% of the women and a major cause of pain and infertility. It is characterized by the implantation of functional endometrial tissue at ectopic positions generally within the peritoneum. This complex disease has an important genetic component with a heritability estimated at around 50%. This review aims at providing recent insights into the genetic bases of endometriosis, and presents a detailed overview of evidence of epigenetic alterations specific to this disease. In the future, these alterations may constitute therapeutic targets for pharmacological compounds able to modify the epigenetic code.
authors.affiliation: Cochin Institute, U1016 INSERM, CNRS 8104, Université Paris Descartes, Paris, France.|Department of Gynecology Obstetrics II and Reproductive Medicine, Faculté de Médecine, AP-HP, Groupe Hospitalier Ouest, Centre Hospitalier Universitaire Paris Centre, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Borghese
authors.affiliation: Nuffield Department of Obstetrics and Gynaecology, Endometriosis Care Centre, University of Oxford, Oxford, UK.
authors.forename: K T
authors.initials: KT
authors.lastname: Zondervan
authors.affiliation: Endometriosis Division, Obstetrics and Gynecology Department, Sao Paulo University, Sao Paulo, Brazil.|Reproductive Clinic, Sirio Libanes Hospital, Sao Paulo, Brazil.
authors.forename: M S
authors.initials: MS
authors.lastname: Abrao
authors.affiliation: Cochin Institute, U1016 INSERM, CNRS 8104, Université Paris Descartes, Paris, France.|Department of Gynecology Obstetrics II and Reproductive Medicine, Faculté de Médecine, AP-HP, Groupe Hospitalier Ouest, Centre Hospitalier Universitaire Paris Centre, Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Chapron
authors.affiliation: Cochin Institute, U1016 INSERM, CNRS 8104, Université Paris Descartes, Paris, France.|Department of Gynecology Obstetrics II and Reproductive Medicine, Faculté de Médecine, AP-HP, Groupe Hospitalier Ouest, Centre Hospitalier Universitaire Paris Centre, Paris, France.
authors.forename: D
authors.initials: D
authors.lastname: Vaiman
mesh_terms: D004715:Endometriosis / Q000235:genetics* / Q000473:pathology; D004717:Endometrium / Q000473:pathology; D044127:Epigenesis, Genetic; D005260:Female; D006801:Humans; D007247:Infertility, Female / Q000235:genetics* / Q000473:pathology; D010537:Peritoneum / Q000473:pathology
keywords: DNA methylation; GWAS; endometriosis; histone post-translational modifications; miRNA