Rare variants in genes of the cholesterol pathway are present in 60% of patients with acute myocardial infarction

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- Investigación (FEP) [494]
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Rare variants in genes of the cholesterol pathway are present in 60% of patients with acute myocardial infarctionAuthor(s)
Date
2022-12-17Citation
Pan-Lizcano R, Mariñas-Pardo L, Núñez L, Rebollal-Leal F, López-Vázquez D, Pereira A, Molina-Nieto A, Calviño R, Vázquez-Rodríguez JM, Hermida-Prieto M. Rare variants in genes of the cholesterol pathway are present in 60% of patients with acute myocardial infarction. Int J Mol Sci. 2022 Dec 17;23(24):16127.
Abstract
[Abstract] Acute myocardial infarction (AMI) is a pandemic in which conventional risk factors are inadequate to detect who is at risk early in the asymptomatic stage. Although gene variants in genes related to cholesterol, which may increase the risk of AMI, have been identified, no studies have systematically screened the genes involved in this pathway. In this study, we included 105 patients diagnosed with AMI with an elevation of the ST segment (STEMI) and treated with primary percutaneous coronary intervention (PPCI). Using next-generation sequencing, we examined the presence of rare variants in 40 genes proposed to be involved in lipid metabolism and we found that 60% of AMI patients had a rare variant in the genes involved in the cholesterol pathway. Our data show the importance of considering the wide scope of the cholesterol pathway in order to assess the genetic risk related to AMI.
Keywords
Acute myocardial infarction
Cholesterol genes
Rare variants
Cholesterol genes
Rare variants
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Rights
Atribución 3.0 España
ISSN
1422-0067