Investigating the genetic characteristics of CAD: Is there a role for myocardial perfusion imaging techniques?
CAD
PET
SPECT
myocardial biology
Journal
Journal of nuclear cardiology : official publication of the American Society of Nuclear Cardiology
ISSN: 1532-6551
Titre abrégé: J Nucl Cardiol
Pays: United States
ID NLM: 9423534
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
received:
25
08
2020
accepted:
02
10
2020
pubmed:
4
11
2020
medline:
14
1
2023
entrez:
3
11
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33141407
doi: 10.1007/s12350-020-02403-x
pii: 10.1007/s12350-020-02403-x
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
2909-2916Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2020. American Society of Nuclear Cardiology.
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