Genetic markers for coronary heart disease

J L Breslow1

  • 1Rockefeller University, Laboratory of Biochemical Genetics and Metabolism, New York, New York 10021, USA. breslow@mail.rockefeller.edu

Clinical Cardiology
|July 11, 2001
PubMed

Insights

Genetic factors significantly influence coronary heart disease (CHD) risk. Understanding human genetic variation in key lipid and homocysteine factors may improve CHD diagnosis and treatment strategies.

Area of Science:

  • Genetics and cardiovascular disease research.
  • Human genetic variation and disease susceptibility.

Background:

  • Coronary heart disease (CHD) is a multifactorial condition influenced by both environmental and genetic elements.
  • Ongoing research investigates the intricate relationship between human genetic variation and disease development.
  • Identifying genetic predispositions is crucial for advancing diagnostic and therapeutic approaches in cardiology.

Purpose of the Study:

  • To explore the role of genetic variation in factors affecting coronary heart disease (CHD) risk.
  • To investigate potential genetic and environmental interactions influencing CHD.
  • To identify specific genetic markers associated with altered CHD risk profiles.

Main Methods:

  • Analysis of genetic variations in key cardiovascular risk factors.
  • Examination of environmental influences on disease pathways.
  • Investigating gene-environment interactions in the context of CHD.

Main Results:

  • Genetic variations in low-density lipoprotein cholesterol, apolipoprotein E, and high-density lipoprotein cholesterol impact CHD risk.
  • Alterations in apolipoprotein A-I/CIII/A-IV, lipoprotein lipase, and cholesteryl ester transfer protein are linked to CHD.
  • Elevated homocysteine levels and lipoprotein (a) variations are associated with increased CHD susceptibility.

Conclusions:

  • Human genetic variation plays a significant role in coronary heart disease (CHD) pathogenesis.
  • Interactions between genetic factors and environmental influences modulate CHD risk.
  • Understanding these genetic underpinnings can lead to personalized diagnostic and therapeutic strategies for CHD.

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Blood Studies for Cardiovascular System I: Cardiac Biomarkers01:20

Blood Studies for Cardiovascular System I: Cardiac Biomarkers

Cardiac biomarkers are enzymes, proteins, and hormones released into the blood when cardiac cells are injured. They are powerful tools for triaging.
The essential diagnostic tools for detecting myocardial necrosis and monitoring individuals suspected of having acute coronary syndrome (ACS) include:
Troponins
Troponins, particularly cardiac troponins I and T, are the most precise and sensitive markers of myocardial injury. They are detectable within 4-6 hours of myocardial injury and remain...
Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers

Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
These markers indicate stress or strain on the heart muscle:
Natriuretic Peptides (BNP)
Cardiac myocytes produce these hormones in response to ventricular stretching...
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...