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

Pan-Lizcano, Ricardo; Mariñas-Pardo, Luis; Núñez Fernández, Lucía; Rebollal-Leal, Fernando; López-Vázquez, Domingo; Pereira, Ana; Molina-Nieto, Aránzazu; Calviño-Santos, Ramón; Vázquez Rodríguez, José Manuel; Hermida-Prieto, Manuel

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http://hdl.handle.net/2183/32320

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

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Identifiers

URI: http://hdl.handle.net/2183/32320

Publication date

2022-12-17

Authors

Pan-Lizcano, Ricardo

Mariñas-Pardo, Luis

Núñez Fernández, Lucía

Rebollal-Leal, Fernando

López-Vázquez, Domingo

Pereira, Ana

Molina-Nieto, Aránzazu

Calviño-Santos, Ramón

Vázquez Rodríguez, José Manuel

Hermida-Prieto, Manuel

Bibliographic citation

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.