Complex Genetics Cardiac Diseases

Complex Genetics Cardiac Diseases

Research Topics uitklapper, klik om te openen

Our research focuses on the genetic mechanisms of complex cardiac diseases and their related traits, including heart failure, cardiomyopathies, heart transplantation outcomes, and electrocardiogram (ECG) and cardiac MRI (CMR) measures. We aim to identify and validate genetic variants and genes that cause cardiac diseases through large-scale association studies such as genome-wide association studies, Loss-of-Function analyses, and polygenic risk score analyses, followed by in silico and in vitro functional follow-up.

Key Publications uitklapper, klik om te openen

1. van Setten J et al. PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity. Nat Commun 2018
2. Hemerich D et al. Integrative Functional Annotation of 52 Genetic Loci Influencing Myocardial Mass Identifies Candidate Regulatory Variants and Target Genes. Circ Genom Precis Med 2019
3. van Setten J et al. Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. Eur J Hum Genet 2019
4. Alasiri A et al. LoFTK: a framework for fully automated calculation of predicted Loss-of-Function variants. BioRxiv 2021

Facilities Involved uitklapper, klik om te openen

UK Biobank,

UCORBIO,

CTMM,

SMART,

BioSHiFT

TRIUMPH

Utrecht Heart Transplant Genetic Study (UHTGS)

UNRAVEL

Software uitklapper, klik om te openen

Loss-of-Function ToolKit: https://github.com/CirculatoryHealth/LoFTK

Genomic plotting Toolkit: https://gitlab.com/cfinan/skyline

QTLToolKit: https://github.com/swvanderlaan/QTLToolKit

MetaGWASToolKit: https://github.com/swvanderlaan/MetaGWASToolKit

GWASToolKit: https://github.com/swvanderlaan/GWASToolKit

slideToolKit: https://github.com/swvanderlaan/slideToolKit

PRSToolKit: https://github.com/swvanderlaan/PRSToolKit

HercultesToolKit: https://github.com/swvanderlaan/HerculesToolKit

People Involved uitklapper, klik om te openen

Chris Finan, Abdul Alasiri, Arjan Cupido, Christian Gross

dr. H.I.I. (Jessica) van Baal

Assistant Professor

drs. F.G. (Floriaan) Leuken

Associate Professor

dr. L.M.M. (Folkert) Lenferink

Full Professor

ir. N.O.O. (Sander) van der Luesink

Assistant Professor

W.X.X. (Marion) van Streekstra BSc

PHD Candidate - OIO

Contact uitklapper, klik om te openen

Jessica van Setten