Gene Polymorphisms and Signaling Defects

  • Christine MannhalterEmail author
  • Michael Poteser
  • Klaus Groschner


Understanding heritability of cardiovascular risk is a key issue in preventive medicine and of particular importance for the development of cost-efficient strategies to preserve cardiovascular health. Recent progress in genotyping technologies enabled detailed insight into human genetic variability. Linkage analysis and genome-wide association screens have complemented candidate gene studies to uncover a large array of genetic variations associated with cardiovascular pathologies. For the majority of identified gene polymorphisms, the clinical impact is as yet unclear and the available information is still of limited value for cardiovascular risk prediction. However, genetic discoveries have greatly improved our understanding of pathophysiological principles. The identification of novel molecular players and target structures contributed significantly to therapeutic progress. In this chapter we aim to present an overview on polymorphisms in genes with proven or at least convincingly suggested causal relation to secondary risk factors and/or cardiovascular phenotypes. Special attention will be paid to functional consequences of genetic variations. Many of the ­polymorphisms that are causally involved in the pathogenesis of cardiovascular dysfunction impair cellular signaling processes and may in turn affect regulatory genetic networks. Unraveling of molecular mechanisms that link genetic variability to pathological phenotypes is still at a rather early stage. We will present here a selection of these mechanisms and discuss their clinical significance.


SNPs Hypertension Diabetes Obesity Dyslipidemia Electrical remodeling Hemostatic disorders 


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Copyright information

© Springer-Verlag Wien 2013

Authors and Affiliations

  • Christine Mannhalter
    • 1
    Email author
  • Michael Poteser
    • 2
  • Klaus Groschner
    • 2
  1. 1.Department of Laboratory MedicineMedical University of ViennaViennaAustria
  2. 2.Center for Physiological Medicine, Institute of BiophysicsMedical University of GrazGrazAustria

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