Evidence map›Paper›PMID 33394050›Full record

ArticleMolecular human reproduction2021

Genetic risk factors for endometriosis near estrogen receptor 1 and coexpression of genes in this region in endometrium.

S Marla, S Mortlock, S Houshdaran, J Fung, B McKinnon, S J Holdsworth-Carson, J E Girling, P A W Rogers, L C Giudice, G W Montgomery

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

Article in Molecular human reproduction, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 1 pooled it
2.8field-weighted citation impact, top 10% 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

18 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.

  1. Pooled it
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  14. New concepts on the etiology of endometriosis.The journal of obstetrics and gynaecology research · 2023
    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

10 authors at 3 institutions in 4 countries.

S MarlaInstitute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, QLD 4072, Australia.
S MortlockInstitute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, QLD 4072, Australia.
S HoushdaranDepartment of Obstetrics, Gynecology and Reproductive Sciences, Center for Reproductive Sciences, University of California, San Francisco, CA 94143, USA.
J FungInstitute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, QLD 4072, Australia.
B McKinnonInstitute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, QLD 4072, Australia.
S J Holdsworth-CarsonDepartment of Obstetrics and Gynaecology, Gynaecology Research Centre, Royal Women's Hospital, University of Melbourne, Parkville, VIC 3052, Australia.
J E GirlingDepartment of Obstetrics and Gynaecology, Gynaecology Research Centre, Royal Women's Hospital, University of Melbourne, Parkville, VIC 3052, Australia.
P A W RogersDepartment of Obstetrics and Gynaecology, Gynaecology Research Centre, Royal Women's Hospital, University of Melbourne, Parkville, VIC 3052, Australia.
L C GiudiceDepartment of Obstetrics, Gynecology and Reproductive Sciences, Center for Reproductive Sciences, University of California, San Francisco, CA 94143, USA.
G W MontgomeryInstitute for Molecular Bioscience, The University of Queensland, St Lucia, Brisbane, QLD 4072, Australia.
The University of Queensland · AURoyal Women's Hospital · AUUniversity of California, San Francisco · US

Funding

UCSF Environmental Research and Translation for Health Center (EaRTH Center)P30ES030284 · NIEHS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI JENNIFER C FUNG, Tracey J. Woodruff · 2020 to 2026
$11.2M
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
NICHD NIH HHS R01 HD089511NIEHS NIH HHS P30 ES030284
6 · The paper itself

Abstract

The etiology and pathogenesis of endometriosis are complex with both genetic and environmental factors contributing to disease risk. Genome-wide association studies (GWAS) have identified multiple signals in the estrogen receptor 1 (ESR1) region associated with endometriosis and other reproductive traits and diseases. In addition, candidate gene association studies identified signals in the ESR1 region associated with endometriosis risk suggesting genetic regulation of genes in this region may be important for reproductive health. This study aimed to investigate hormonal and genetic regulation of genes in the ESR1 region in human endometrium. Changes in serum oestradiol and progesterone concentrations and expression of hormone receptors ESR1 and progesterone receptor (PGR) were assessed in endometrial samples from 135 women collected at various stages of the menstrual cycle. Correlation between hormone concentrations, receptor expression and expression of genes in the ESR1 locus was investigated. The effect of endometriosis risk variants on expression of genes in the region was analyzed to identify gene targets. Hormone concentrations and receptor expression varied significantly across the menstrual cycle. Expression of genes in the ESR1 region correlated with progesterone concentration; however, they were more strongly correlated with expression of ESR1 and PGR suggesting coregulation of genes. There was no evidence that endometriosis risk variants directly regulated expression of genes in the region. Limited sample size and cellular heterogeneity in endometrial tissue may impact the ability to detect significant genetic effects on gene expression. Effects of these variants should be validated in a larger dataset and in relevant individual cell types.

Indexed as

Gene Expression RegulationGenetic Predisposition to DiseaseEndometriosisEndometriumEstradiolEstrogen Receptor alphaFemaleGenetic VariationHumansMenstrual CycleProgesteroneReceptors, Cytoplasmic and NuclearRisk FactorsESR1 protein, humanEstradiolEstrogen Receptor alphaProgesteroneReceptors, Cytoplasmic and NuclearendometriumESR1gene expressionoestradiolprogesterone

Identifiers

PMID33394050
PMCPMC8453628
OpenAlexW3118859855

What OpenQuestion holds

Textmetadata
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.