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Heinig, 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.*

Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy.

Genome Biol. 18:170 (2017)

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Background: 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.

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Publication type Article: Journal article

Document type Scientific Article

Corresponding Author

Keywords Dilated Cardiomyopathy ; Eqtl ; Gene Expression ; Genetics ; Heart; Genome-wide Association; Mitochondrial Thioredoxin Reductase; Myocardial Ischemic-injury; Light-chain Kinase; Myosin Heavy-chain; Follistatin-like 1; Heart-failure; Natriuretic-peptides; Expression Variation; Atrial-fibrillation

ISSN (print) / ISBN 1474-760X

e-ISSN 1465-6906

Journal Genome Biology

Quellenangaben Volume: 18, Issue: 1, Article Number: 170

Publisher BioMed Central

Publishing Place London

Non-patent literature Publications

Reviewing status Peer reviewed

Institute(s) Institute of Computational Biology (ICB)