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A High-Throughput Luciferase Assay to Evaluate Proteolysis of the Single-Turnover Protease PCSK9
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PCSK9 gene variations in the clinical setting of premature cardiovascular disease: A critical appraisal

Rebeca Lorca1, Andrea Aparicio2, Luis Gutiérrez2

  • 1Área del Corazón, Hospital Universitario Central Asturias, 33011 Oviedo, Spain; Instituto de Investigación Sanitaria del Principado de Asturias, ISPA, 33011 Oviedo, Spain; Departamento de Morfología y Biología Celular, Universidad de Oviedo, 33003 Oviedo, Spain; Unidad de Cardiopatías Familiares, Área del Corazón y Departamento de Genética Molecular, Hospital Universitario Central Asturias, 33011 Oviedo, Spain; Redes de Investigación Cooperativa Orientadas a Resultados en Salud (RICORs), 28029 Madrid, Spain.

International Journal of Cardiology
|July 29, 2024
PubMed

Insights

This study found no association between PCSK9 gene variations and cardiovascular disease risk factors or severity in young myocardial infarction patients. PCSK9 genotypes did not differ between patients and controls, suggesting no link to premature STEMI.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • The association between PCSK9 gene variations and cardiovascular disease (CVD) remains controversial.
  • This study investigates three specific PCSK9 polymorphisms in young patients experiencing ST-segment elevation myocardial infarction (STEMI).

Purpose of the Study:

  • To evaluate the association between three reported PCSK9 gene polymorphisms and cardiovascular disease in a cohort of young STEMI patients.
  • To determine if PCSK9 genotypes correlate with clinical variables or the extent of coronary artery disease (CAD) in this population.

Main Methods:

  • A retrospective study included 216 patients with premature STEMI (2018-2023) and 200 controls.
  • Genotyping was performed for three PCSK9 polymorphisms (rs12117661, rs2483205, rs505151) in 207 patients and the control group.

Main Results:

  • No significant differences in genotype frequencies were observed between STEMI patients and controls, with distributions adhering to Hardy-Weinberg equilibrium.
  • Among STEMI patients, PCSK9 genotypes showed no association with clinical variables such as age, gender, cardiovascular risk factors, cholesterol levels, family history of premature CAD, or the number of affected coronary arteries.

Conclusions:

  • The study found no association between the investigated PCSK9 genotypes (rs12117661, rs2483205, rs505151) and cardiovascular risk factors or the extent of CAD in patients with premature STEMI.
  • Genotype distribution did not differ between the patient and control groups, indicating no significant genetic link through these specific polymorphisms in this cohort.
Abstract

Keywords:
CADPCSK9 genePrognosisRisk factors

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