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@article{Heinig:2017:10.1186/s13059-017-1286-z,
author = {Heinig, M and Adriaens, ME and Schafer, S and van, Deutekom HWM and Lodder, EM and Ware, JS and Schneider, V and Felkin, LE and Creemers, EE and Meder, B and Katus, HA and Ruehle, F and Stoll, M and Cambien, F and Villard, E and Charron, P and Varro, A and Bishopric, NH and George, AL and dos, Remedios C and Moreno-Moral, A and Pesce, F and Bauerfeind, A and Rueschendorf, F and Rintisch, C and Petretto, E and Barton, PJ and Cook, SA and Pinto, YM and Bezzina, CR and Hubner, N},
doi = {10.1186/s13059-017-1286-z},
journal = {Genome Biology},
title = {Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy},
url = {http://dx.doi.org/10.1186/s13059-017-1286-z},
volume = {18},
year = {2017}
}

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TY  - JOUR
AB  - Background: Genetic variation is an important determinant of RNA transcription and splicing, which in turncontributes 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 97patients with dilated cardiomyopathy and 108 non-diseased controls. We reveal extensive differences of geneexpression and splicing between dilated cardiomyopathy patients and controls, affecting known as well as noveldilated cardiomyopathy genes. Moreover, we show a widespread effect of genetic variation on the regulation oftranscription, isoform usage, and allele-specific expression. Systematic annotation of genome-wide association SNPsidentifies 60 functional candidate genes for heart phenotypes, representing 20% of all published heart genome-wideassociation loci. Focusing on the dilated cardiomyopathy phenotype we found that eQTL variants are also enriched fordilated cardiomyopathy genome-wide association signals in two independent cohorts.Conclusions: RNA transcription, splicing, and allele-specific expression are each important determinants of the dilatedcardiomyopathy phenotype and are controlled by genetic factors. Our results represent a powerful resource for thefield of cardiovascular genetics.
AU  - Heinig,M
AU  - Adriaens,ME
AU  - Schafer,S
AU  - van,Deutekom HWM
AU  - Lodder,EM
AU  - Ware,JS
AU  - Schneider,V
AU  - Felkin,LE
AU  - Creemers,EE
AU  - Meder,B
AU  - Katus,HA
AU  - Ruehle,F
AU  - Stoll,M
AU  - Cambien,F
AU  - Villard,E
AU  - Charron,P
AU  - Varro,A
AU  - Bishopric,NH
AU  - George,AL
AU  - dos,Remedios C
AU  - Moreno-Moral,A
AU  - Pesce,F
AU  - Bauerfeind,A
AU  - Rueschendorf,F
AU  - Rintisch,C
AU  - Petretto,E
AU  - Barton,PJ
AU  - Cook,SA
AU  - Pinto,YM
AU  - Bezzina,CR
AU  - Hubner,N
DO  - 10.1186/s13059-017-1286-z
PY  - 2017///
SN  - 1474-7596
TI  - Natural genetic variation of the cardiac transcriptome in non-diseased donors and patients with dilated cardiomyopathy
T2  - Genome Biology
UR  - http://dx.doi.org/10.1186/s13059-017-1286-z
UR  - http://hdl.handle.net/10044/1/51162
VL  - 18
ER  -

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