A positive family history is one of the strongest cardiovascular risk factor. However, an intensive search of the molecular mechanisms explaining the inherited predisposition of coronary artery disease (CAD) and myocardial infarction (MI) has remained largely elusive for more than two decades.
The scientific breakthrough for genetic studies of complex diseases like CAD and MI came with the availability of genome wide SNP arrays and subsequent genome-wide associations studies (GWAS). Since 2007 several GWAS and GWAS meta-analyses on CAD/MI have been published and today a total of more than 200 genetic risk loci for CAD/MI have been identified.
Deciphering monogenic cardiovascular diseases
We have established a NGS platform to identify disease-causing variants in families. The main focus lies on CAD, cardiomyopathies, and congenital heart defects.
Complex genetics of CAD
The aim of our team is to provide a better insight into the pathobiology of coronary artery disease (CAD) by exposing novel CAD genes and its contributing effects. CAD is a polygenic disease, a disease which is driven by complex genetic disruption involving many genes. Our team focus on identifying common variants (minor allele frequency ≥0.01) using genome-wide association studies (GWAS) and pre- and post-GWAS strategies. In GWAS up to millions of SNP markers in a set of cases and controls are genotyped. We apply different statistical tools and underlying models to predict associations of these SNPs with CAD.