BibTex format
@article{Meyer:2020:10.1038/s41586-020-2635-8,
author = {Meyer, H and Dawes, T and Serrani, M and Bai, W and Tokarczuk, P and Cai, J and Simoes, Monteiro de Marvao A and Henry, A and Lumbers, T and Gierten, J and Thumberger, T and Wittbrodt, J and Ware, J and Rueckert, D and Matthews, P and Prasad, S and Costantino, M and Cook, S and Birney, E and O'Regan, D},
doi = {10.1038/s41586-020-2635-8},
journal = {Nature},
pages = {589--594},
title = {Genetic and functional insights into the fractal structure of the heart},
url = {http://dx.doi.org/10.1038/s41586-020-2635-8},
volume = {584},
year = {2020}
}
RIS format (EndNote, RefMan)
TY - JOUR
AB - The inner surfaces of the human heart are covered by a complex network of muscular strands that is thought to be a vestigeof embryonic development.1,2 The function of these trabeculae in adults and their genetic architecture are unknown. Toinvestigate this we performed a genome-wide association study using fractal analysis of trabecular morphology as animage-derived phenotype in 18,096 UK Biobank participants. We identified 16 significant loci containing genes associatedwith haemodynamic phenotypes and regulation of cytoskeletal arborisation.3,4 Using biomechanical simulations and humanobservational data, we demonstrate that trabecular morphology is an important determinant of cardiac performance. Throughgenetic association studies with cardiac disease phenotypes and Mendelian randomisation, we find a causal relationshipbetween trabecular morphology and cardiovascular disease risk. These findings suggest an unexpected role for myocardialtrabeculae in the function of the adult heart, identify conserved pathways that regulate structural complexity, and reveal theirinfluence on susceptibility to disease
AU - Meyer,H
AU - Dawes,T
AU - Serrani,M
AU - Bai,W
AU - Tokarczuk,P
AU - Cai,J
AU - Simoes,Monteiro de Marvao A
AU - Henry,A
AU - Lumbers,T
AU - Gierten,J
AU - Thumberger,T
AU - Wittbrodt,J
AU - Ware,J
AU - Rueckert,D
AU - Matthews,P
AU - Prasad,S
AU - Costantino,M
AU - Cook,S
AU - Birney,E
AU - O'Regan,D
DO - 10.1038/s41586-020-2635-8
EP - 594
PY - 2020///
SN - 0028-0836
SP - 589
TI - Genetic and functional insights into the fractal structure of the heart
T2 - Nature
UR - http://dx.doi.org/10.1038/s41586-020-2635-8
UR - https://www.nature.com/articles/s41586-020-2635-8
UR - http://hdl.handle.net/10044/1/80636
VL - 584
ER -
