Single Nucleotide Polymorphisms in Health and Cardiac Disease

摘要: The prevalence of many complex human diseases such as asthma, cardiovascular disease, and diabetes has risen greatly over the past two decades in developed countries. In addition, genetic causes monogenic have been identified, leading to a better understanding their pathogenesis development preventive strategies, diagnostic tools, treatment. Considerable effort made detect loci contributing quantitative phenotypes arrhythmogenic diseases. Genetic association linkage studies comprise dominant strategies: aim find disease-predisposing alleles [from single nucleotide polymorphisms (SNPs) or microsatellite markers] at population level, whereas focus on familial segregation. Predisposition arrhythmia, e.g., acquired QT prolongation torsade de pointes (TdP) during treatment with cardiac noncardiac drugs, is still major challenge for physicians. Recent advances knowledge genomic physiological regulation myocardial repolarization suggest that common alterations (ion channel) genes are associated slight electrophysiological changes an increased susceptibility ventricular arrhythmia. extent which factors play role under current investigation remains be determined. availability extensive catalogues SNPs non- across genome applicable further functional address issue genetically determined arrhythmogenesis.