Genomics and metabolomics insights into cardiovascular disease

Ruben Nathaniël Eppinga

    Research output: ThesisThesis fully internal (DIV)

    632 Downloads (Pure)


    Cardiovascular disease (CVD) is the leading cause of death worldwide. In the past 50 years, considerable progress has been made in the definition, identification and modification of CVD risk factors and the development of appropriate medical and interventional treatments. All of these measures have resulted in a decline in cardiovascular mortality. However, despite these efforts and subsequent progress, the mechanisms underlying the presentation and pathophysiology of CVD are still poorly understood.
    The first draft of the human genome (Human Genome Project) was produced over 15 years ago, which led to a deeper understanding of genetic contributions to CVD. Genome-wide association scans gives us the opportunity to better understand the genetic variants across the genome which are important for CVD. For example, we explored the genomics of resting heart rate and mortality. Previous studies showed an association between heart rate and life expectancy or risk, but do not provide sufficient evidence for a (shared) causal relationship. We found evidence that genetic variants associated with higher resting heart rate also confer a risk for death. Furthermore, we found provide new insights into the genomics of coronary artery disease.
    Metabolomics, represent downstream products of gene transcription which provides new opportunities to find novel biomarkers in CVD. In this thesis we found that specific lipoprotein subfractions can predict left ventricular dysfunction after acute myocardial infarction.
    The findings of this dissertation help us better understand the pathophysiology of cardiovascular disease, obtain new insights into risk prediction and provide new targets for therapy.
    Translated title of the contributionGenomics en metabolomics inzichten in hart -en vaatziekten
    Original languageEnglish
    Awarding Institution
    • University of Groningen
    • van der Harst, Pim, Supervisor
    • van Gilst, Wiek, Supervisor
    • Verweij, Niek, Co-supervisor
    Award date16-May-2018
    Place of Publication[Groningen]
    Print ISBNs978-94-034-0529-2
    Electronic ISBNs978-94-034-0528-5
    Publication statusPublished - 2018

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