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PECAM1, COL4A2, PHACTR1, and LMOD1 Gene Polymorphisms in Patients with Unstable Angina

Krzysztof Kosiński1, Damian Malinowski2, Krzysztof Safranow3

  • 1Department of Cardiology, Hospital in Szczecin, Arkonska 4, 71-455 Szczecin, Poland.

Journal of Clinical Medicine
|January 21, 2022
PubMed

Insights

Genetic variations in PHACTR1 and LMOD1 are linked to an increased risk of unstable angina. This study identifies specific gene polymorphisms associated with this cardiovascular condition, offering insights into its development.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genetic Epidemiology

Background:

  • Coronary artery disease (CAD) pathogenesis involves genetic and environmental factors, with atherosclerotic plaques causing myocardial ischemia.
  • Plaque stability and formation are influenced by endothelial and vascular smooth muscle cell (VSMC) functions.
  • Acute coronary events often result from plaque rupture or erosion, leading to thrombus formation.

Purpose of the Study:

  • To investigate the association between specific gene polymorphisms affecting endothelial and VSMC function and the risk of unstable angina pectoris.
  • To evaluate the relationship between PECAM1 (rs1867624), COL4A2 (rs4773144), PHACTR1 (rs9349379), and LMOD1 (rs2820315) gene polymorphisms and unstable angina risk.

Main Methods:

  • Case-control study involving 232 patients with unstable angina and 144 healthy controls.
  • Genotyping of four specific gene polymorphisms: PECAM1 rs1867624, COL4A2 rs4773144, PHACTR1 rs9349379, and LMOD1 rs2820315.
  • Statistical analysis including comparison of allele and genotype frequencies and multivariate logistic regression.

Main Results:

  • No significant differences in COL4A2 rs4773144 or PECAM1 rs1867624 polymorphism distribution between patients and controls.
  • Increased frequency of PHACTR1 rs9349379 G allele carriers (GG+AG genotypes) in unstable angina patients (OR 1.71, p=0.017).
  • Higher prevalence of LMOD1 rs2820315 T allele carriers (TT+CT genotypes) in unstable angina patients (OR 1.65, p=0.019).
  • Multivariate analysis confirmed G allele (PHACTR1 rs9349379) and T allele (LMOD1 rs2820315) as independent risk factors for unstable angina.

Conclusions:

  • PHACTR1 rs9349379 and LMOD1 rs2820315 gene polymorphisms are associated with an increased risk of unstable angina.
  • These findings suggest a genetic predisposition to unstable angina related to endothelial and VSMC function.
  • Further research may elucidate the precise mechanisms linking these polymorphisms to cardiovascular risk.

Keywords:
coronary artery diseasegeneticpolymorphismunstable angina

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