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Single Nucleotide Polymorphisms in Health and Cardiac Disease

  • Chapter
Electrical Diseases of the Heart

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Abstract

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

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Author information

Authors and Affiliations

  1. Department of Cardiology and Angiology Molecular Genetics, Hospital of the University of Münster, Münster, Germany

    Eric Schulze-Bahr MD (Professor)

Authors
  1. Eric Schulze-Bahr MD
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Editor information

Editors and Affiliations

  1. Cardiovascular Boehringer Ingelheim Pharmaceuticals Ridgefield, CT, USA

    Ihor Gussak MD, PhD, FACC (Deputy Therapeutic Area Head, Professor of Pharmacology) (Deputy Therapeutic Area Head, Professor of Pharmacology)

  2. Robert Wood Johnson Medical School, University of Medicine and Dentistry of New Jersey, Bridgewater, NJ, USA

    Ihor Gussak MD, PhD, FACC (Deputy Therapeutic Area Head, Professor of Pharmacology) (Deputy Therapeutic Area Head, Professor of Pharmacology)

  3. Gordon K. Moe Scholar Masonic Medical Research Laboratory, Utica, NY, USA

    Charles Antzelevitch PhD, FACC, FAHA, FHRS (Executive Director and Director of Research) (Executive Director and Director of Research)

  4. Upstate Medical University, Syracuse, NY, USA

    Charles Antzelevitch PhD, FACC, FAHA, FHRS (Executive Director and Director of Research) (Executive Director and Director of Research)

  5. Heart Failure Research Center Department of Clinical and Experimental Cardiology, Academic Medical Center, Amsterdam, The Netherlands

    Arthur A. M. Wilde MD, PhD, FESC, FAHA (Professor) (Professor)

  6. Mayo Clinic College of Medicine, Rochester, MN, USA

    Paul A. Friedman MD (Professor of Medicine) & Michael J. Ackerman MD, PhD, FACC (Professor of Medicine, Pediatrics and Pharmacology, Consultant Cardiovascular Disease and Pediatric Cardiology, Director Long QT Syndrome Clinic and the Mayo Clinic Windland Smith Rice Sudden Death Genomics) (Professor of Medicine) &  (Professor of Medicine, Pediatrics and Pharmacology, Consultant Cardiovascular Disease and Pediatric Cardiology, Director Long QT Syndrome Clinic and the Mayo Clinic Windland Smith Rice Sudden Death Genomics)

  7. Division of Cardiovascular Diseases, Mayo Clinic College of Medicine, Rochester, MN, USA

    Win-Kuang Shen MD (Consultant, Professor of Medicine) (Consultant, Professor of Medicine)

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Schulze-Bahr, E. (2008). Single Nucleotide Polymorphisms in Health and Cardiac Disease. In: Gussak, I., Antzelevitch, C., Wilde, A.A.M., Friedman, P.A., Ackerman, M.J., Shen, WK. (eds) Electrical Diseases of the Heart. Springer, London. https://doi.org/10.1007/978-1-84628-854-8_18

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  • DOI: https://doi.org/10.1007/978-1-84628-854-8_18

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-84628-853-1

  • Online ISBN: 978-1-84628-854-8

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