Identification of Genes Involved in Familial Coronary Artery Disease

Studying families with multiple cases of coronary artery disease (CAD) or with early onset CAD in order to identify new genes involved in CAD in an autosomal dominant manner. After identifying these genes in families that pass on CAD in Mendelian inheritance, we want to pursue their role in the pathogenesis of CAD and their contribution in the general population.]]>
Inclusion Affected: Over 50% coronary artery blockage in catheterization. Unaffected: 25% and lower coronary artery blockage in catheterization. Can include arrhythmia, valvular disease. Exclusion Children under 18 years. 25-50% coronary artery blockage in catheterization. Can not include in the unaffected group individuals with cardiomyopathy.]]>
Two large families with CAD were recruited, as well as an intermediate family and sporadic healthy and affected individuals. For the two large families we have undertaken: exclusion of sequence variants of LDLR, linkage analysis, exclusion of sequence variants of suspected genes in the region. Later-on, with collaboration with Dr. Sekar Kathiresan we have pursued exome sequencing in the two large and one intermediate family with CAD. We are now analyzing the results. ]]>