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Investigating the genetic characteristics of CAD: Is there a role for myocardial perfusion imaging techniques?

  • Review Article
  • Published:
Journal of Nuclear Cardiology Aims and scope

Abstract

Several environmental and genetic factors have been found to influence the development and progression of coronary artery disease (CAD). Although the effects of the environmental hazards on CAD pathophysiology are well documented, the genetic architecture of the disease remains quite unclear. A number of single-nucleotide polymorphisms have been identified based on the results of the genome-wide association studies. However, there is a lack of strong evidence regarding molecular causality. The minority of the reported predisposing variants can be related to the conventional risk factors of CAD, while most of the polymorphisms occur in non-protein-coding regions of the DNA. However, independently of the specific underlying mechanisms, genetic information could lead to the identification of a population at higher genetic risk for the long-term development of CAD. Myocardial single-photon emission computed tomography (SPECT) and positron emission tomography (PET) are functional imaging techniques that can evaluate directly myocardial perfusion, and detect vascular and/or endothelial dysfunction. Therefore, these techniques could have a role in the investigation of the underlying mechanisms associated with the identified predisposing variants, advancing our understanding regarding molecular causality. In the population at higher genetic risk, myocardial SPECT or PET could provide important evidence through the early depiction of sub-clinical dysfunctions, well before any atherosclerosis marker could be identified. Notably, SPECT and PET techniques have been already used for the investigation of the functional consequences of several CAD-related polymorphisms, as well as the response to certain treatments (statins). Furthermore, therefore, in the clinical setting, the combination of genetic evidence with the findings of myocardial SPECT, or PET, functional imaging techniques could lead to more efficient screening methods and may improve decision making with regard to the diagnostic investigation and patients’ management.

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Abbreviations

CAD:

Coronary artery disease

GRS:

Genetic risk score

GWAS:

Genome-wide association studies

PET:

Positron emission tomography

SNP:

Single-nucleotide polymorphism

SPECT:

Single-photon emission computed tomography

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Disclosures

The authors George Angelidis, Varvara Valotassiou, Maria Satra, Dimitrios Psimadas, John Koutsikos, John Skoularigis, Panagoula Kollia, and Panagiotis Georgoulias have nothing to declare.

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Authors and Affiliations

  1. Nuclear Medicine Laboratory, University Hospital of Larissa, University of Thessaly, Larissa, Greece

    G. Angelidis MD, PhD, V. Valotassiou MD, PhD, D. Psimadas PhD & P. Georgoulias MD, PhD

  2. Biology & Genetics Laboratory, University of Thessaly, Larissa, Greece

    M. Satra PhD

  3. Department of Nuclear Medicine, 401 General Military Hospital, Athens, Greece

    J. Koutsikos MD, PhD

  4. Department of Cardiology, University of Thessaly, Larissa, Greece

    J. Skoularigis MD, PhD

  5. Department of Genetics & Biotechnology, Faculty of Biology, National & Kapodistrian University of Athens, Athens, Greece

    P. Kollia PhD

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  1. G. Angelidis MD, PhD
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  2. V. Valotassiou MD, PhD
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  8. P. Georgoulias MD, PhD
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Correspondence to G. Angelidis MD, PhD.

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Angelidis, G., Valotassiou, V., Satra, M. et al. Investigating the genetic characteristics of CAD: Is there a role for myocardial perfusion imaging techniques?. J. Nucl. Cardiol. 29, 2909–2916 (2022). https://doi.org/10.1007/s12350-020-02403-x

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  • DOI: https://doi.org/10.1007/s12350-020-02403-x

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