dc.contributor
Institut Català de la Salut
dc.contributor
[Mortlock S] The Institute for Molecular Bioscience, The University of Queensland, Brisbane, Australia. [Houshdaran S] Center for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA. [Kosti I] Bakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA, USA. [Rahmioglu N] Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK. Oxford Endometriosis CaRe Centre, Nuffield Department of Women’s and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK. [Nezhat C] Stanford University Medical Center, Palo Alto, CA, USA. University of California San Francisco, San Francisco, CA, USA. Camran Nezhat Institute, Center for Special Minimally Invasive and Robotic Surgery, Woodside, CA, USA. [Vitonis AF] Obstetrics and Gynecology Epidemiology Center, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA. [Santamaria X] Carlos Simon Foundation, Health Research Institute, Valencia, Spain. Grup de Recerca Biomèdica en Ginecologia, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Mortlock, Sally-Anne
dc.contributor.author
Houshdaran, Sahar
dc.contributor.author
Kosti, Idit
dc.contributor.author
RAHMIOGLU, NILUFER
dc.contributor.author
Nezhat, Camran
dc.contributor.author
Vitonis, Allison
dc.contributor.author
Santamaria, Xavier
dc.date.accessioned
2025-10-24T08:47:30Z
dc.date.available
2025-10-24T08:47:30Z
dc.date.issued
2023-09-20T08:48:19Z
dc.date.issued
2023-09-20T08:48:19Z
dc.date.issued
2023-08-16
dc.identifier
Mortlock S, Houshdaran S, Kosti I, Rahmioglu N, Nezhat C, Vitonis AF, et al. Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function. Commun Biol. 2023 Aug 16;6:780.
dc.identifier
https://hdl.handle.net/11351/10320
dc.identifier
10.1038/s42003-023-05070-z
dc.identifier.uri
http://hdl.handle.net/11351/10320
dc.description.abstract
Epigenomics; Genetic predisposition to disease; Urogenital reproductive disorders
dc.description.abstract
Epigenómica; Predisposición genética a la enfermedad; Trastornos reproductivos urogenitales
dc.description.abstract
Epigenòmica; Predisposició genètica a la malaltia; Trastorns reproductius urogenitals
dc.description.abstract
Endometriosis is a leading cause of pain and infertility affecting millions of women globally. Herein, we characterize variation in DNA methylation (DNAm) and its association with menstrual cycle phase, endometriosis, and genetic variants through analysis of genotype data and methylation in endometrial samples from 984 deeply-phenotyped participants. We estimate that 15.4% of the variation in endometriosis is captured by DNAm and identify significant differences in DNAm profiles associated with stage III/IV endometriosis, endometriosis sub-phenotypes and menstrual cycle phase, including opening of the window for embryo implantation. Menstrual cycle phase was a major source of DNAm variation suggesting cellular and hormonally-driven changes across the cycle can regulate genes and pathways responsible for endometrial physiology and function. DNAm quantitative trait locus (mQTL) analysis identified 118,185 independent cis-mQTLs including 51 associated with risk of endometriosis, highlighting candidate genes contributing to disease risk. Our work provides functional evidence for epigenetic targets contributing to endometriosis risk and pathogenesis. Data generated serve as a valuable resource for understanding tissue-specific effects of methylation on endometrial biology in health and disease.
dc.description.abstract
This work has been supported by the National Institutes of Health (NIH) NICHD R01 HD089511. It was also supported, in part, by funding from Wellbeing of Women (through sponsorship from PwC) (R42533) and the Medical Research Council (MR/N024524/1 and MR/N022556/1) and NIH HD094842 (Harvard/MSU). K.K. was supported by NIH NCI R37 CA233774. A.F.M. was supported by an Australian Research Council Future Fellowship (FT200100837). G.W.M. was supported by NHMRC Fellowship (GNT1177194).
dc.format
application/pdf
dc.format
application/pdf
dc.format
application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
dc.format
application/pdf
dc.format
application/pdf
dc.publisher
Nature Portfolio
dc.relation
Communications Biology;6
dc.relation
https://doi.org/10.1038/s42003-023-05070-z
dc.rights
Attribution 4.0 International
dc.rights
http://creativecommons.org/licenses/by/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Endometriosi - Aspectes genètics
dc.subject
ADN - Metilació
dc.subject
PHENOMENA AND PROCESSES::Chemical Phenomena::Biochemical Phenomena::Alkylation::Methylation::DNA Methylation
dc.subject
DISEASES::Female Urogenital Diseases and Pregnancy Complications::Female Urogenital Diseases::Genital Diseases, Female::Endometriosis
dc.subject
Other subheadings::Other subheadings::Other subheadings::/genetics
dc.subject
FENÓMENOS Y PROCESOS::fenómenos químicos::fenómenos bioquímicos::alquilación::metilación::metilación del ADN
dc.subject
ENFERMEDADES::enfermedades de los genitales femeninos y complicaciones del embarazo::enfermedades urogenitales femeninas::enfermedades de los genitales femeninos::endometriosis
dc.subject
Otros calificadores::Otros calificadores::Otros calificadores::/genética
dc.title
Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
