Evidence map›Paper›PMID 29511167›Full record

ArticleNature communications2018

A transcriptome-wide association study identifies PALMD as a susceptibility gene for calcific aortic valve stenosis.

Sébastien Thériault, Nathalie Gaudreault, Maxime Lamontagne, Mickael Rosa, Marie-Chloé Boulanger, David Messika-Zeitoun, Marie-Annick Clavel, Romain Capoulade, François Dagenais, Philippe Pibarot and 2 more

Registry-linked trialOpen access · goldAbstract read
In one paragraph

Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01679431 (Metabolic Determinants of the Progression of Aortic Stenosis - PROGRESSA Study), which is not on this map. Cited by 75 papers, 6 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
75citing papers in PubMed, 6 pooled it
9.9field-weighted citation impact, top 1% 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.

NCT01679431 unknown statusnot on this map

Metabolic Determinants of the Progression of Aortic Stenosis - PROGRESSA Study

TypeobservationalSponsorLaval UniversityRan2005 to 2024Enrolled250ConditionsAortic Valve StenosisArmsDoppler-echocardiography, Computed tomography, Magnetic resonance imaging, Fasting blood sample
3 · Its place in the literature

Who cites it

75 citing papers in PubMed, 6 syntheses or guidelines pooled it, 137 citations in OpenAlex.

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  18. Transcriptome-Wide Association Study of Metabolic Dysfunction-Associated Steatotic Liver Disease Identifies Relevant Gene Signatures.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2024
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15 more citing papers are in PubMed but not listed here.

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

12 authors at 2 institutions in 2 countries.

Sébastien ThériaultInstitut universitaire de cardiologie et de pneumologie de Québec-Université Laval, Quebec City, QC, G1V 4G5, Canada.
Nathalie GaudreaultInstitut universitaire de cardiologie et de pneumologie de Québec-Université Laval, Quebec City, QC, G1V 4G5, Canada.ORCID http://orcid.org/0000-0002-5351-596X
Maxime LamontagneInstitut universitaire de cardiologie et de pneumologie de Québec-Université Laval, Quebec City, QC, G1V 4G5, Canada.
Mickael RosaInstitut universitaire de cardiologie et de pneumologie de Québec-Université Laval, Quebec City, QC, G1V 4G5, Canada.
Marie-Chloé BoulangerInstitut universitaire de cardiologie et de pneumologie de Québec-Université Laval, Quebec City, QC, G1V 4G5, Canada.
David Messika-ZeitounCardiology Department, AP-HP, Bichat Hospital, 75018, Paris, France.
Marie-Annick ClavelInstitut universitaire de cardiologie et de pneumologie de Québec-Université Laval, Quebec City, QC, G1V 4G5, Canada.ORCID http://orcid.org/0000-0002-8924-740X
Romain CapouladeInstitut universitaire de cardiologie et de pneumologie de Québec-Université Laval, Quebec City, QC, G1V 4G5, Canada.
François DagenaisInstitut universitaire de cardiologie et de pneumologie de Québec-Université Laval, Quebec City, QC, G1V 4G5, Canada.
Philippe PibarotInstitut universitaire de cardiologie et de pneumologie de Québec-Université Laval, Quebec City, QC, G1V 4G5, Canada.
Patrick MathieuInstitut universitaire de cardiologie et de pneumologie de Québec-Université Laval, Quebec City, QC, G1V 4G5, Canada.
Yohan BosséInstitut universitaire de cardiologie et de pneumologie de Québec-Université Laval, Quebec City, QC, G1V 4G5, Canada. yohan.bosse@criucpq.ulaval.ca.ORCID http://orcid.org/0000-0002-3067-3711
Institut universitaire de cardiologie et de pneumologie de Québec · CAInserm · FR

Funding

Medical Research Council MC_PC_17228Medical Research Council MC_QA137853
6 · The paper itself

Abstract

Calcific aortic valve stenosis (CAVS) is a common and life-threatening heart disease and the current treatment options cannot stop or delay its progression. A GWAS on 1009 cases and 1017 ethnically matched controls was combined with a large-scale eQTL mapping study of human aortic valve tissues (n = 233) to identify susceptibility genes for CAVS. Replication was performed in the UK Biobank, including 1391 cases and 352,195 controls. A transcriptome-wide association study (TWAS) reveals PALMD (palmdelphin) as significantly associated with CAVS. The CAVS risk alleles and increasing disease severity are both associated with decreased mRNA expression levels of PALMD in valve tissues. The top variant identified shows a similar effect and strong association with CAVS (P = 1.53 × 10

Indexed as

Aortic ValveAortic Valve StenosisCalcinosisDisease ProgressionGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMembrane ProteinsTranscriptomeMembrane ProteinsPALMD protein, human

Identifiers

PMID29511167
PMCPMC5840407
OpenAlexW2950772595

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.