Genomics, Haplotypes and Cardiovascular Disease

Cardiovascular disease has a complex genetic and environmental origin. Single-gene mutations have been identified for a variety of disorders, including several forms of sudden cardiac death, atrial fibrillation, hypertrophic cardiomyopathy and coronary artery disease. The recent availability of haplotype data has further enabled genomic approaches to mapping genetic variants associated with the more common polygenic forms of cardiovascular disease. Genome-wide association studies have identified single nucleotide polymorphisms associated with coronary artery disease and are being applied to a variety of clinical problems such as in-stent restenosis. The combination of high-throughput genomic tools such as high density microarrays, genomic information such as sequence and haplotype data, and the careful clinical definition of phenotypes provides the framework for realizing the goals of personalized medicine.