Genetic and environmental determinants of diastolic heart function

Abstract

Diastole is the sequence of physiological events that occur in the heart during ventricular filling and principally depends on myocardial relaxation and chamber stiffness. Abnormal diastolic function is related to many cardiovascular disease processes and is predictive of health outcomes, but its genetic architecture is largely unknown. Here, we use machine learning cardiac motion analysis to measure diastolic functional traits in UK Biobank participants to identify environmental modifiers and associated common genetic variants.

Content

• Cardiac Image analysis (ukbb_cardiac)
  Automated pipeline for image segmentation and motion analysis.

• Peak detection
  Automated peak detection algorithm to obtain the diastolic peak.

• Phenotype anaysis
  Cardiac phenotype pipeline to investigate the relationships between the myocardial diastolic function parameters and the non-imaging clinical data.

• Genetic anaysis
  Genome-wide association study (GWAS) analysis for the derived diastolic function traits. Contains also the causality assessment and polygenic risk score calculations.

• Plots
  Scatter and box plots of diastolic function.

License

Distributed under the GNU GENERAL PUBLIC LICENSE license. See LICENSE for more information.

Citation

Marjola Thanaj, Johanna Mielke, Kathryn A. McGurk, Wenjia Bai, Nicolo Savioli, Antonio de Marvao, Hannah V. Meyer, Lingyao Zeng, Martin R. Wilkins, James S. Ware, Christian Bender, Daniel Rueckert, Aidan MacNamara, Daniel F. Freitag, and Declan P. O’Regan. Genetic and environmental determinants of diastolic heart function. medRxiv. 2021 2021.06.07.21257302. doi: 10.1101/2021.06.07.21257302