Genetics and Genomics of Single-Gene Cardiovascular Diseases : Common Hereditary Cardiomyopathies as Prototypes of Single-Gene Disorders
AffiliationUniversity of Arizona College of Medicine
MetadataShow full item record
PublisherELSEVIER SCIENCE INC
CitationGenetics and Genomics of Single-Gene Cardiovascular Diseases 2016, 68 (25):2831 Journal of the American College of Cardiology
Rights© 2016 by the American College of Cardiology Foundation. Published by Elsevier.
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AbstractThis 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(s) 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.
Note12 month embargo; Available online 19 December 2016
VersionFinal accepted manuscript
SponsorsNHLBI NIH HHS [R01 HL088498, R01 HL132401, R34 HL105563]