Related Experiment Videos

Myocardial infarction is associated with Spl binding site polymorphism of collagen type 1A1 gene

Gábor Speer1, Péter Szenthe, János P Kósa

  • 11st Department of Medicine, Semmelweis University, Budapest, Hungary. speerga@bel1.sote.hu

Acta Cardiologica
|July 28, 2006
PubMed

Insights

The collagen type 1A1 (COL1A1) gene Sp1 polymorphism, specifically the "SS" genotype, was more frequent in myocardial infarction (MI) survivors. Cardiovascular risk factors were higher in carriers of the "s" allele, suggesting a potential role in MI development.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Atherosclerosis Research

Background:

  • Collagen type I is present in atherosclerotic lesions, influencing plaque stability, but absent in normal coronary arteries.
  • The collagen type 1A1 (COL1A1) gene Sp1 binding site (-1245 G/T) polymorphism is linked to altered collagen production.
  • Understanding genetic predispositions is crucial for cardiovascular disease research.

Purpose of the Study:

  • To investigate the association between COL1A1 gene Sp1 polymorphism and myocardial infarction (MI).
  • To explore the relationship between this polymorphism and cardiovascular risk factors in MI patients.

Main Methods:

  • Genotyping for COL1A1 gene Sp1 polymorphism (-1245 G/T) in 136 MI patients and 212 controls.
  • Assessment of cardiovascular risk factors including serum adiponectin, insulin status, and lipid profiles.

Main Results:

  • The 'SS' genotype of COL1A1 was significantly more prevalent in MI survivors compared to controls.
  • 'Ss' and 'ss' genotypes (presence of the 's' allele) were less frequent in MI patients.
  • Carriers of the 's' allele exhibited a higher incidence of cardiovascular risk factors than 'S' allele carriers.

Conclusions:

  • The COL1A1 gene Sp1 polymorphism may influence the development of myocardial infarction.
  • This genetic variation could be a contributing factor to cardiovascular disease risk.
Abstract

Related Concept Videos

Myocarditis I: Introduction01:21

Myocarditis I: Introduction

Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
Fibril-associated Collagen01:11

Fibril-associated Collagen

Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...
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...
Type IV Collagen of Basal Lamina01:05

Type IV Collagen of Basal Lamina

Type IV collagen is a 400 nm long, network-forming collagen that acts as a barrier between the epithelial and endothelial cells. Type IV collagen  forms the backbone of the basement membrane by scaffolding with laminin, entactin, proteoglycans, and fibronectin. Apart from rendering structural support to the basement membrane, it also helps entail signaling potentials necessary for both pathological and physiological functions.
A type IV collagen molecule has six alpha chains which can exist in...
Acute Coronary Syndrome I: Introduction01:30

Acute Coronary Syndrome I: Introduction

Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...