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

bul.description.provenanceec spbfr
bul.rights.dateAccepPubl2018-03-07fr
bul.rights.periodeEmbargoP0Mfr
bul.rights.typeDatedatePublicationfr
dc.contributor.authorGaudreault, Nathalie
dc.contributor.authorThériault, Sébastien
dc.contributor.authorRosa, Mickael
dc.contributor.authorBoulanger, Marie-Chloé
dc.contributor.authorCapoulade, Romain
dc.contributor.authorMessika-Zeitoun, David
dc.contributor.authorBossé, Yohan
dc.contributor.authorLamontagne, Maxime
dc.contributor.authorPibarot, Philippe
dc.contributor.authorClavel, Marie-Annick
dc.contributor.authorDagenais, François
dc.contributor.authorMathieu, Patrick
dc.date.accessioned2020-05-06T19:55:09Z
dc.date.available2020-05-06T19:55:09Z
dc.date.issued2018-03-07
dc.description.abstractCalcific 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 tran- scriptome-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 × 10−10) in UK Biobank. The identification of PALMD as a susceptibility gene for CAVS provides insights into the genetic nature of this disease, opens avenues to investigate its etiology and to develop much-needed therapeutic options.fr
dc.identifier.doi10.1038/s41467-018-03260-6fr
dc.identifier.issn2041-1723fr
dc.identifier.pubmed29511167fr
dc.identifier.urihttp://hdl.handle.net/20.500.11794/39135
dc.languageengfr
dc.publisherNature Publishing Groupfr
dc.rightshttp://purl.org/coar/access_right/c_abf2
dc.subject.rvmAorte -- Rétrécissement -- Aspect génétiquefr
dc.titleA transcriptome-wide association study identifies PALMD as a susceptibility gene for calcific aortic valve stenosisfr
dc.typearticle de recherche
dc.type.legacyCOAR1_1::Texte::Périodique::Revue::Contribution à un journal::Article::Article de recherchefr
dcterms.bibliographicCitationNature Communications, Vol. 9 (1), 988 (2018)fr
dspace.accessstatus.time2024-03-23 18:03:16
dspace.entity.typePublication
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rioxxterms.projectMOP-102481; MOP-137058; PJT-153396fr
rioxxterms.project.funder-nameCanada Research Chair in Valvular Heart Diseasefr
rioxxterms.project.funder-nameFoundation Scheme Grantfr
rioxxterms.project.funder-nameCanadian Institutes of Health Researchfr
rioxxterms.project.funder-nameFonds de Recherche du Québec - Santéfr
rioxxterms.project.funder-nameResearch Chair on the Pathobiology of Calcific Aortic Valve Diseasefr
rioxxterms.project.funder-nameResearch Chair in Genomics of Heart and Lung Diseasesfr
rioxxterms.project.funder-nameHeart and Stroke Foundation of Canadafr
rioxxterms.versionAccepted Manuscript (AM)fr
rioxxterms.version-of-recordhttps://doi.org/10.1038/s41467-018-03260-6fr

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