C05-GUARD – Genes Underlying Aortic valve Disease

Aortic valve stenosis (AS) develops in the context of a bi- or tricuspid aortic valve formation. Genetic factors are involved in the development of both AS types. However, the genetic architecture is heterogeneous and depends on the effect size and frequency of the underlying disease variants/mutations. Through our scientific network GUARD (www.guard-net.de), we carried out two large genome-wide association studies (GWAS) that led to the identification of common risk variants for the development of both AS types. We now aim to identify the entire spectrum of genetic risk factors for bi- and tricuspid AS and to analyse them together with other disease-relevant data sets using modern systems biology approaches.