BibTex format

author = {Thanaj, M and Mielke, J and McGurk, K and Bai, W and Savioli, N and Simoes, Monteiro de Marvao A and Meyer, H and Zeng, L and Sohler, F and Lumbers, T and Wilkins, M and Ware, J and Bender, C and Rueckert, D and MacNamara, A and Freitag, D and O'Regan, D},
doi = {10.1038/s44161-022-00048-2},
journal = {Nature Cardiovascular Research},
pages = {361--371},
title = {Genetic and environmental determinants of diastolic heart function},
url = {},
volume = {1},
year = {2022}

RIS format (EndNote, RefMan)

AB - Diastole is the sequence of physiological events that occur in the heart during ventricular filling and principally depends onmyocardial relaxation and chamber stiffness. Abnormal diastolic function is related to many cardiovascular disease processesand is predictive of health outcomes, but its genetic architecture is largely unknown. Here, we use machine learning cardiacmotion analysis to measure diastolic functional traits in 39,559 participants of the UK Biobank and perform a genome-wideassociation study. We identified 9 significant, independent loci near genes that are associated with maintaining sarcomericfunction under biomechanical stress and genes implicated in the development of cardiomyopathy. Age, sex and diabetes wereindependent predictors of diastolic function and we found a causal relationship between genetically-determined ventricularstiffness and incident heart failure. Our results provide insights into the genetic and environmental factors influencing diastolicfunction that are relevant for identifying causal relationships and potential tractable targets.
AU - Thanaj,M
AU - Mielke,J
AU - McGurk,K
AU - Bai,W
AU - Savioli,N
AU - Simoes,Monteiro de Marvao A
AU - Meyer,H
AU - Zeng,L
AU - Sohler,F
AU - Lumbers,T
AU - Wilkins,M
AU - Ware,J
AU - Bender,C
AU - Rueckert,D
AU - MacNamara,A
AU - Freitag,D
AU - O'Regan,D
DO - 10.1038/s44161-022-00048-2
EP - 371
PY - 2022///
SN - 2731-0590
SP - 361
TI - Genetic and environmental determinants of diastolic heart function
T2 - Nature Cardiovascular Research
UR -
UR -
UR -
VL - 1
ER -