Single nucleotide polymorphisms in health and cardiac disease

Abstract

Recent advances in knowledge of the genome structure of ion channel genes and their physiologic role in myocardial repolarization have shown that genetic alterations of these key molecular components are associated with slight in-vitro effects and changes in fine tune of normal repolarization. It is expected that next-generation sequencing technologies (e.g., targeted resequencing of ion channel genes) will booster knowledge for individual arrhythmia predisposition and will enable researchers to lower the costs of complex genotyping and to implement these data into a personalized, genomic-oriented medicine. In this chapter, the role of natural genomic variation according to two main hypotheses, i.e. the ‘common variant-common disease’ hypothesis and the ‘rare variants in common disease’ hypothesis will be discussed upon current knowledge.