Evidence map›Paper›PMID 30871624›Full record

ArticleClinical epigenetics2019

Genetic regulation of methylation in human endometrium and blood and gene targets for reproductive diseases.

Sally Mortlock, Restuadi Restuadi, Rupert Levien, Jane E Girling, Sarah J Holdsworth-Carson, Martin Healey, Zhihong Zhu, Ting Qi, Yang Wu, Samuel W Lukowski and 5 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical epigenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 4 pooled it
1.9field-weighted citation impact, top 14% 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

26 citing papers in PubMed, 4 syntheses or guidelines pooled it, 42 citations in OpenAlex.

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  15. New concepts on the etiology of endometriosis.The journal of obstetrics and gynaecology research · 2023
    Article
  16. Clinical characteristics and surgical management of endometriosis-associated infertility: A multicenter prospective cohort study.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2022
    Article
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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

15 authors at 2 institutions in 2 countries.

Sally MortlockInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, Building 80, St Lucia, QLD, 4072, Australia. s.mortlock@imb.uq.edu.au.ORCID 0000-0003-2327-9465
Restuadi RestuadiInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, Building 80, St Lucia, QLD, 4072, Australia.
Rupert LevienInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, Building 80, St Lucia, QLD, 4072, Australia.
Jane E GirlingDepartment of Obstetrics and Gynaecology, and Gynaecology Research Centre, University of Melbourne, Royal Women's Hospital, Parkville, VIC, 3052, Australia.
Sarah J Holdsworth-CarsonDepartment of Obstetrics and Gynaecology, and Gynaecology Research Centre, University of Melbourne, Royal Women's Hospital, Parkville, VIC, 3052, Australia.
Martin HealeyDepartment of Obstetrics and Gynaecology, and Gynaecology Research Centre, University of Melbourne, Royal Women's Hospital, Parkville, VIC, 3052, Australia.
Zhihong ZhuInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, Building 80, St Lucia, QLD, 4072, Australia.
Ting QiInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, Building 80, St Lucia, QLD, 4072, Australia.
Yang WuInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, Building 80, St Lucia, QLD, 4072, Australia.
Samuel W LukowskiInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, Building 80, St Lucia, QLD, 4072, Australia.
Peter A W RogersDepartment of Obstetrics and Gynaecology, and Gynaecology Research Centre, University of Melbourne, Royal Women's Hospital, Parkville, VIC, 3052, Australia.
Jian YangInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, Building 80, St Lucia, QLD, 4072, Australia.
Allan F McRaeInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, Building 80, St Lucia, QLD, 4072, Australia.
Jenny N FungInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, Building 80, St Lucia, QLD, 4072, Australia.
Grant W MontgomeryInstitute for Molecular Bioscience, The University of Queensland, 306 Carmody Road, Building 80, St Lucia, QLD, 4072, Australia.
The University of Queensland · AURoyal Women's Hospital · AU

Funding

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
NICHD NIH HHS R01 HD089511
6 · The paper itself

Abstract

backgroundMajor challenges in understanding the functional consequences of genetic risk factors for human disease are which tissues and cell types are affected and the limited availability of suitable tissue. The aim of this study was to evaluate tissue-specific genotype-epigenetic characteristics in DNA samples from both endometrium and blood collected from women at different stages of the menstrual cycle and relate results to genetic risk factors for reproductive traits and diseases.

resultsWe analysed DNA methylation (DNAm) data from endometrium and blood samples from 66 European women. Methylation profiles were compared between stages of the menstrual cycle, and changes in methylation overlaid with changes in transcription and genotypes. We observed large changes in methylation (27,262 DNAm probes) across the menstrual cycle in endometrium that were not observed in blood. Individual genotype data was tested for association with methylation at 443,016 and 443,101 DNAm probes in endometrium and blood respectively to identify methylation quantitative trait loci (mQTLs). A total of 4546 sentinel cis-mQTLs (P < 1.13 × 10

conclusionsWe report novel findings characterising genetic regulation of methylation in endometrium and the association of endometrial mQTLs with endometriosis risk and other reproductive traits and diseases. The high correlation of genetic effects between tissues highlights the potential to exploit the power of large mQTL datasets in endometrial research and identify target genes for functional studies. However, tissue-specific methylation profiles and genetic effects also highlight the importance of also using disease-relevant tissues when investigating molecular mechanisms of disease risk.

Indexed as

DNA MethylationQuantitative Trait LociAdultBlood Chemical AnalysisEndometriosisEndometriumEpigenesis, GeneticFemaleGene Expression RegulationGenetic Predisposition to DiseaseHumansMenstrual CycleOrgan SpecificityPolymorphism, Single NucleotideWhite PeopleBloodDNA methylationDNA methylation quantitative trait loci (mQTL)EndometriosisEndometriumMenstrual cycle

Identifiers

PMID30871624
PMCPMC6416889
OpenAlexW2935812272

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.