Evidence map›Paper›PMID 37587191›Full record

ArticleCommunications biology2023

Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function.

Sally Mortlock, Sahar Houshdaran, Idit Kosti, Nilufer Rahmioglu, Camran Nezhat, Allison F Vitonis, Shan V Andrews, Parker Grosjean, Manish Paranjpe, Andrew W Horne and 22 more

Open access · goldAbstract read
In one paragraph

Article in Communications biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed, 1 pooled it
8.5field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

31 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

32 authors at 9 institutions in 4 countries.

Sally Mortlock *The Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia. s.mortlock@imb.uq.edu.au.ORCID 0000-0003-2327-9465
Sahar Houshdaran *Center for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0003-3163-5298
Idit Kosti *Bakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA, USA.
Nilufer Rahmioglu *Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.ORCID 0000-0002-5169-8571
Camran NezhatStanford University Medical Center, Palo Alto, CA, USA.
Allison F VitonisObstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0000-0003-1243-0844
Shan V AndrewsBakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA, USA.
Parker GrosjeanBakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA, USA.
Manish ParanjpeBakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA, USA.
Andrew W HorneMRC Centre for Reproductive Health, University of Edinburgh, QMRI, Edinburgh, UK.ORCID 0000-0002-9656-493X
Alison JacobyCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA.
Jeannette LagerCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA.
Jessica Opoku-AnaneCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA.
Kim Chi VoCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA.
Evelina ManvelyanCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA.
Sushmita SenCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA.
Zhanna GhukasyanCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA.
Frances CollinsMRC Centre for Reproductive Health, University of Edinburgh, QMRI, Edinburgh, UK.
Xavier SantamariaCarlos Simon Foundation, Health Research Institute, Valencia, Spain.
Philippa SaundersCentre for Inflammation Research, Institute for Regeneration and Repair University of Edinburgh, Edinburgh, UK.ORCID 0000-0001-9051-9380
Kord KoberBakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0001-9732-3321
Allan F McRaeThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.
Kathryn L TerryObstetrics and Gynecology Epidemiology Center, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Júlia Vallvé-JuanicoCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0002-1312-5588
Christian BeckerOxford Endometriosis CaRe Centre, Nuffield Department of Women's and Reproductive Health, John Radcliffe Hospital, University of Oxford, Oxford, UK.ORCID 0000-0002-9870-9581
Peter A W RogersUniversity of Melbourne Department of Obstetrics and Gynaecology, Royal Women's Hospital, Melbourne, Australia.ORCID 0000-0002-7399-8997
Juan C IrwinCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA.
Krina ZondervanWellcome Centre for Human Genetics, University of Oxford, Oxford, UK.ORCID 0000-0002-0275-9905
Grant W MontgomeryThe Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD, 4072, Australia.ORCID 0000-0002-4140-8139
Stacey MissmerDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Marina SirotaBakar Computational Health Sciences Institute, University of California San Francisco, San Francisco, CA, USA.ORCID 0000-0002-7246-6083
Linda GiudiceCenter for Reproductive Sciences, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA. Linda.Giudice@ucsf.edu.ORCID 0000-0002-1677-0822
University of California, San Francisco · USBrigham and Women's Hospital · USThe University of Queensland · AUCentre for Human Genetics · GBMRC Centre for Reproductive Health · GBCentre for Inflammation Research · GBJohn Radcliffe Hospital · GBRoyal Women's Hospital · AUVall d'Hebron Institut de Recerca · ES

Funding

An Investigation of the Molecular Mechanisms for and Prediction of the Severity of Cancer Chemotherapy-Related Fatigue Using a Multi-staged Integrated Omics ApproachR37CA233774 · NCI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KOBER, KORD MICHAEL · 2019 to 2025
$4.8M
What is Endometriosis? Deep Phenotyping to Advance Diagnosis and TreatmentR01HD094842 · NICHD · MICHIGAN STATE UNIVERSITY · PI FAZLEABAS, ASGERALLY T., MISSMER, STACEY ANN · 2018 to 2022
$4.2M
Integrative Program in Complex Biological System (ipCBS)T32EB009383 · NIBIB · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI MARSHALL, WALLACE, WEINER, ORION D · 2009 to 2022
$3.2M
Integrative Analysis of Genomic, Epigenomic and Phenotypic Data for Disease Stratification of EndometriosisR01HD089511 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI GIUDICE, LINDA C, MISSMER, STACEY ANN · 2016 to 2020
$3.0M
Medical Research Council MR/N022556/1Medical Research Council MR/N024524/1NCI NIH HHS R37 CA233774NIBIB NIH HHS T32 EB009383NICHD NIH HHS R01 HD089511NICHD NIH HHS R01 HD094842
6 · The paper itself

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.

Indexed as

EndometriosisDNA MethylationEmbryo ImplantationFemaleHumansPain

Identifiers

PMID37587191
PMCPMC10432557
OpenAlexW4385874294

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.