title: Genetics and Genomics of Single-Gene Cardiovascular Diseases: Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders.
abstract: This is the first of 2 review papers on genetics and genomics appearing as part of the series on "omics." Genomics pertains to all components of an organism's genes, whereas genetics involves analysis of a specific gene or genes in the context of heredity. The paper provides introductory comments, describes the basis of human genetic diversity, and addresses the phenotypic consequences of genetic variants. Rare variants with large effect sizes are responsible for single-gene disorders, whereas complex polygenic diseases are typically due to multiple genetic variants, each exerting a modest effect size. To illustrate the clinical implications of genetic variants with large effect sizes, 3 common forms of hereditary cardiomyopathies are discussed as prototypic examples of single-gene disorders, including their genetics, clinical manifestations, pathogenesis, and treatment. The genetic basis of complex traits is discussed in a separate paper.
authors.affiliation: Center for Cardiovascular Genetics, Brown Foundation Institute of Molecular Medicine, The University of Texas Health Science Center, and Texas Heart Institute, Houston, Texas. Electronic address: Ali.J.Marian@uth.tmc.edu.
authors.forename: Ali J
authors.initials: AJ
authors.lastname: Marian
authors.affiliation: Hubrecht Institute, KNAW and University Medical Center Utrecht, Utrecht, the Netherlands; Department of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands.
authors.forename: Eva
authors.initials: E
authors.lastname: van Rooij
authors.affiliation: University of Arizona College of Medicine, Phoenix, Arizona.
authors.forename: Robert
authors.initials: R
authors.lastname: Roberts
mesh_terms: D009202:Cardiomyopathies / Q000151:congenital / Q000175:diagnosis / Q000235:genetics; D002318:Cardiovascular Diseases / Q000175:diagnosis / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D014644:Genetic Variation; D023281:Genomics / Q000379:methods*; D006801:Humans; D010641:Phenotype
keywords: cardiomyopathy; mutation; noncoding RNA