Evidence map›Paper›PMID 34675350›Full record

ArticleCommunications biology2021

Multi-tissue transcriptome-wide association study identifies eight candidate genes and tissue-specific gene expression underlying endometrial cancer susceptibility.

Pik Fang Kho, Xuemin Wang, Gabriel Cuéllar-Partida, Thilo Dörk, Ellen L Goode, Diether Lambrechts, Rodney J Scott, Amanda B Spurdle, Tracy A O'Mara, Dylan M Glubb

Open access · goldAbstract read
In one paragraph

Article in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed, 1 pooled it
1.8field-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

21 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.

  1. Multiancestry Transcriptome-Wide Association Study Identifies Candidate Genes Associated with Hepatoblastoma.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025
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  5. The Effect of Circulating Proteins and Their Role in Mediating Adiposity's Effect on Endometrial Cancer Risk: Mendelian Randomization and Colocalization Analyses.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2025
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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 6 institutions in 4 countries.

Pik Fang KhoDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0001-7831-6062
Xuemin WangDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Gabriel Cuéllar-PartidaDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0001-7648-4097
Thilo DörkGynaecology Research Unit, Hannover Medical School, Hannover, Germany.ORCID 0000-0002-9458-0282
Ellen L GoodeDepartment of Health Science Research, Division of Epidemiology, Mayo Clinic, Rochester, MN, USA.
Diether LambrechtsLaboratory for Translational Genetics, Department of Human Genetics, KU Leuven, VIB Center for Cancer Biology, Leuven, Belgium.
Rodney J ScottDivision of Molecular Medicine, Pathology North, John Hunter Hospital, Newcastle, NSW, Australia.ORCID 0000-0001-7724-3404
Amanda B SpurdleDepartment of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0003-1337-7897
Tracy A O'Mara *Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. Tracy.OMara@qimrberghofer.edu.au.ORCID 0000-0002-5436-3232
Dylan M Glubb *Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.ORCID 0000-0002-2184-7708
QIMR Berghofer Medical Research Institute · AUJohn Hunter Hospital · AUMayo Clinic in Florida · USMedizinische Hochschule Hannover · DEQueensland University of Technology · AUVIB-KU Leuven Center for Cancer Biology · BE

Funding

Department of Health | National Health and Medical Research Council (NHMRC) APP1109286Department of Health | National Health and Medical Research Council (NHMRC) APP1173170Department of Health | National Health and Medical Research Council (NHMRC) APP177524
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) have revealed sixteen risk loci for endoemtrial cancer but the identification of candidate susceptibility genes remains challenging. Here, we perform transcriptome-wide association study (TWAS) analyses using the largest endometrial cancer GWAS and gene expression from six relevant tissues, prioritizing eight candidate endometrial cancer susceptibility genes, one of which (EEFSEC) is located at a potentially novel endometrial cancer risk locus. We also show evidence of biologically relevant tissue-specific expression associations for CYP19A1 (adipose), HEY2 (ovary) and SKAP1 (whole blood). A phenome-wide association study demonstrates associations of candidate susceptibility genes with anthropometric, cardiovascular, diabetes, bone health and sex hormone traits that are related to endometrial cancer risk factors. Lastly, analysis of TWAS data highlights candidate compounds for endometrial cancer repurposing. In summary, this study reveals endometrial cancer susceptibility genes, including those with evidence of tissue specificity, providing insights into endometrial cancer aetiology and avenues for therapeutic development.

Indexed as

Genome-Wide Association StudyTranscriptomeEndometrial NeoplasmsFemaleGene Expression ProfilingGenetic Predisposition to DiseaseHumansOrgan SpecificityQuantitative Trait Loci

Identifiers

PMID34675350
PMCPMC8531339
OpenAlexW3206719626

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.