Please use this identifier to cite or link to this item: https://doi.org/10.1186/s13059-017-1286-z
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dc.titleNatural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy
dc.contributor.authorHeinig M.
dc.contributor.authorAdriaens M.E.
dc.contributor.authorSchafer S.
dc.contributor.authorvan Deutekom H.W.M.
dc.contributor.authorLodder E.M.
dc.contributor.authorWare J.S.
dc.contributor.authorSchneider V.
dc.contributor.authorFelkin L.E.
dc.contributor.authorCreemers E.E.
dc.contributor.authorMeder B.
dc.contributor.authorKatus H.A.
dc.contributor.authorRühle F.
dc.contributor.authorStoll M.
dc.contributor.authorCambien F.
dc.contributor.authorVillard E.
dc.contributor.authorCharron P.
dc.contributor.authorVarro A.
dc.contributor.authorBishopric N.H.
dc.contributor.authorGeorge A.L.
dc.contributor.authordos Remedios C.
dc.contributor.authorMoreno-Moral A.
dc.contributor.authorPesce F.
dc.contributor.authorBauerfeind A.
dc.contributor.authorRüschendorf F.
dc.contributor.authorRintisch C.
dc.contributor.authorPetretto E.
dc.contributor.authorBarton P.J.
dc.contributor.authorCook S.A.
dc.contributor.authorPinto Y.M.
dc.contributor.authorBezzina C.R.
dc.contributor.authorHubner N.
dc.date.accessioned2019-01-08T09:06:37Z
dc.date.available2019-01-08T09:06:37Z
dc.date.issued2017
dc.identifier.citationHeinig M., Adriaens M.E., Schafer S., van Deutekom H.W.M., Lodder E.M., Ware J.S., Schneider V., Felkin L.E., Creemers E.E., Meder B., Katus H.A., Rühle F., Stoll M., Cambien F., Villard E., Charron P., Varro A., Bishopric N.H., George A.L., dos Remedios C., Moreno-Moral A., Pesce F., Bauerfeind A., Rüschendorf F., Rintisch C., Petretto E., Barton P.J., Cook S.A., Pinto Y.M., Bezzina C.R., Hubner N. (2017). Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy. Genome Biology 18 (1) : 170. ScholarBank@NUS Repository. https://doi.org/10.1186/s13059-017-1286-z
dc.identifier.issn14747596
dc.identifier.urihttp://scholarbank.nus.edu.sg/handle/10635/150631
dc.description.abstractBackground: Genetic variation is an important determinant of RNA transcription and splicing, which in turn contributes to variation in human traits, including cardiovascular diseases. Results: Here we report the first in-depth survey of heart transcriptome variation using RNA-sequencing in 97 patients with dilated cardiomyopathy and 108 non-diseased controls. We reveal extensive differences of gene expression and splicing between dilated cardiomyopathy patients and controls, affecting known as well as novel dilated cardiomyopathy genes. Moreover, we show a widespread effect of genetic variation on the regulation of transcription, isoform usage, and allele-specific expression. Systematic annotation of genome-wide association SNPs identifies 60 functional candidate genes for heart phenotypes, representing 20% of all published heart genome-wide association loci. Focusing on the dilated cardiomyopathy phenotype we found that eQTL variants are also enriched for dilated cardiomyopathy genome-wide association signals in two independent cohorts. Conclusions: RNA transcription, splicing, and allele-specific expression are each important determinants of the dilated cardiomyopathy phenotype and are controlled by genetic factors. Our results represent a powerful resource for the field of cardiovascular genetics. © 2017 The Author(s).
dc.publisherBioMed Central Ltd.
dc.sourceScopus
dc.subjectDilated cardiomyopathy
dc.subjectEQTL
dc.subjectGene expression
dc.subjectGenetics
dc.subjectHeart
dc.typeArticle
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.description.doi10.1186/s13059-017-1286-z
dc.description.sourcetitleGenome Biology
dc.description.volume18
dc.description.issue1
dc.description.page170
dc.description.codenGNBLF
dc.grant.idHEFT
dc.grant.idNIHR
dc.grant.idCRB
dc.grant.idR01 HL071094
dc.grant.idEGU
dc.grant.idBHF
dc.grant.idNUS
dc.grant.id01GS084
dc.grant.id01ZX1408D
dc.grant.idBMBF
dc.grant.idNHLBI
dc.grant.fundingagencyHeart of England NHS Foundation Trust
dc.grant.fundingagencyNational Institute for Health Research
dc.grant.fundingagencyCitrus Research Board
dc.grant.fundingagencyNIH, National Institutes of Health
dc.grant.fundingagencyEuropean Geosciences Union
dc.grant.fundingagencyBritish Heart Foundation
dc.grant.fundingagencyNational University of Singapore
dc.grant.fundingagencyBMBF, Bundesministerium für Bildung und Forschung
dc.grant.fundingagencyBMBF, Bundesministerium für Bildung und Forschung
dc.grant.fundingagencyBundesministerium für Bildung und Forschung
dc.grant.fundingagencyNational Heart, Lung, and Blood Institute
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