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PubMed
Summary
This summary is machine-generated.

Three genetic variants previously linked to coronary artery disease (CAD) are associated with coronary artery calcium (CAC) scores in asymptomatic individuals. These findings may help predict and prevent future CAD events.

Keywords:
CAC scoreCADCardiovascular preventionDCGenetic variantsPrevenção cardiovascularScore CACVariantes genéticas

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Area of Science:

  • Genetics
  • Cardiovascular Disease Research
  • Biomarkers

Background:

  • Coronary artery disease (CAD) is a leading cause of mortality.
  • Understanding the genetic underpinnings of CAD is crucial for developing effective prevention and treatment strategies.
  • Coronary artery calcium (CAC) scoring serves as an intermediate phenotype for assessing CAD risk.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) previously linked to CAD and CAC scores in an asymptomatic Portuguese cohort.
  • To identify genetic markers that can predict subclinical atherosclerosis.

Main Methods:

  • A prospective study involving 1284 asymptomatic subjects.
  • Coronary artery calcium (CAC) scoring using cardiac computed tomography.
  • Genotyping of 33 SNPs using TaqMan real-time PCR.
  • Analysis of anthropometric, clinical, and biochemical risk factors.
  • Bivariate and multivariate regression analyses to identify associations with CAC score.

Main Results:

  • The PHACTR1 rs1332844 C>T SNP showed a significant association with CAC score (p=0.015).
  • CDKN2B-AS1 variants rs4977574 A>G (p=0.002) and rs1333049 G>C (p=0.010) at the 9p21.3 locus were also associated with CAC score.
  • The MTHFD1L rs6922269 G>A variant demonstrated a protective effect against artery calcification (p=0.013).
  • Multivariate analysis confirmed independent associations for PHACTR1 rs1332844 (OR=1.478; p=0.009), CDKN2B-AS1 rs4977574 (OR=1.479; p=0.002), and MTHFD1L rs6922269 (OR=0.558; p=0.027) with CAC score.

Conclusions:

  • Three genetic variants previously associated with CAD demonstrate a significant link with CAC in asymptomatic individuals.
  • These genetic factors, alongside conventional risk factors, may offer insights for early CAD risk stratification.
  • Identifying these genetic associations could inform targeted lifestyle or pharmacological interventions to mitigate CAD risk before clinical manifestation.