HLA-DR B1 and DQ B1 polymorphisms in patients with coronary artery ectasia

Ramazan Akdemir1, Hakan Ozhan, Hüseyin Gunduz

  • 1Abant Izzet Baysal University Düzce Faculty of Medicine Dept of Cardiology Konuralp Düzce, Turkey. rakdemir@yahoo.com

Acta Cardiologica
|November 9, 2004
PubMed

Insights

Certain human leukocyte antigen (HLA) class II gene polymorphisms, specifically HLA-DRB1*13, DR16, DQ2, and DQ5, are more common in patients with coronary artery ectasia (CAE). These findings suggest a potential role in CAE development.

Area of Science:

  • Immunogenetics
  • Cardiovascular Medicine
  • Human Genetics

Background:

  • Coronary artery ectasia (CAE) is a condition characterized by abnormal dilation of coronary arteries.
  • The genetic factors contributing to CAE pathogenesis are not fully understood.
  • Human leukocyte antigen (HLA) genes play a crucial role in immune responses and have been implicated in various diseases.

Purpose of the Study:

  • To investigate the association between polymorphisms in HLA class II genes and the risk of developing coronary artery ectasia (CAE).

Main Methods:

  • Genotyping of HLA class II alleles was performed in 26 patients diagnosed with CAE.
  • A control group of 95 healthy individuals was included for comparison.
  • Genotype frequencies were compared between the CAE patient group and the control group.

Main Results:

  • Specific HLA class II genotypes, including HLA-DRB1*13, DR16, DQ2, and DQ5, were found to be significantly more prevalent in patients with CAE.
  • No significant differences in traditional coronary heart disease risk factors were observed between patients with these genotypes and those without.

Conclusions:

  • The identified HLA class II genotypes (HLA-DRB1*13, DR16, DQ2, and DQ5) may be associated with the underlying mechanisms of CAE.
  • These genetic variations could potentially increase an individual's susceptibility to developing coronary artery ectasia.
Abstract

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Coronary Artery Disease II: Pathophysiology01:26

Coronary Artery Disease II: Pathophysiology

Coronary Artery Disease (CAD) originates from a series of events that impair the function of coronary arteries, the blood vessels responsible for delivering oxygen-rich blood to the heart muscle. The pathophysiology of CAD is closely linked to atherosclerosis, a chronic inflammatory and lipid-driven condition affecting the vascular endothelium.1. Endothelial DamageThe process begins with damage to the vascular endothelium, which serves as a protective barrier between the blood and the vessel...
Coronary Artery Disease I: Introduction01:30

Coronary Artery Disease I: Introduction

Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
Genetic Lingo01:11

Genetic Lingo

Overview