Related Experiment Video

Updated: Jul 14, 2026

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
07:00

A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene

Published on: April 1, 2019

A polymorphism in the endothelin-A receptor gene predicts survival in patients with idiopathic dilated cardiomyopathy

S Herrmann1, K Schmidt-Petersen, J Pfeifer

  • 1Institute of Clinical Pharmacology and Toxicology, Department of Clinical Pharmacology, Benjamin Franklin Medical Center, Freie Universität Berlin, Germany.

European Heart Journal
|October 17, 2001
PubMed

Insights

Genetic variations in the endothelin-A (ETA) receptor gene are linked to survival outcomes in patients with dilated cardiomyopathy. This finding may help identify individuals at higher risk for the condition.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Pharmacogenomics

Background:

  • The endothelin system is implicated in the complex pathophysiology of idiopathic dilated cardiomyopathy.
  • Genetic factors influencing the endothelin system may impact cardiac phenotypes and disease progression in dilated cardiomyopathy.

Purpose of the Study:

  • To investigate the association between genetic polymorphisms of the endothelin system and cardiac phenotypes in dilated cardiomyopathy.
  • To determine if endothelin system gene variations predict disease outcome and survival in dilated cardiomyopathy patients.

Main Methods:

  • Genotyping of 125 unrelated dilated cardiomyopathy patients for six common polymorphisms in endothelin-1, endothelin-A (ETA), and endothelin-B (ETB) receptor genes.
  • Analysis using hybridization with allele-specific oligonucleotides.
  • Statistical analysis including Kaplan-Meier and Cox proportional hazards models.

Main Results:

  • The H323H (C/T) polymorphism in the ETA receptor gene was significantly associated with shorter survival time post-diagnosis.
  • Carriers of the ET(A)T allele had a 5.5-fold increased odds of mortality within 2 years compared to non-carriers (P=0.013).
  • The ETA H323H polymorphism was an independent predictor of survival, even after accounting for established prognostic factors.

Conclusions:

  • Genetic variation in the ETA receptor is a significant predictor of survival in dilated cardiomyopathy patients.
  • These findings could aid in identifying high-risk individuals within the dilated cardiomyopathy cohort.
  • Further research into the endothelin system's role in dilated cardiomyopathy prognosis is warranted.
Abstract

More Related Videos

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish08:09

A Doxorubicin-induced Cardiomyopathy Model in Adult Zebrafish

Published on: June 7, 2018

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Related Concept Videos

Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists01:18

Treatment for Pulmonary Arterial Hypertension: Endothelin Receptor Antagonists

Endothelins (ETs) are potent vasoactive peptides critical in the human body's various physiological and pathological processes. One of the most promising therapeutic strategies for treating pulmonary arterial hypertension (PAH) involves counteracting the effects of these endothelins using a class of drugs known as endothelin receptor antagonists.
ETs are synthesized through a complex sequence of enzymatic steps, primarily involving an enzyme referred to as endothelin-converting enzyme (ECE). Of...
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...
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...
Heart Failure II: Pathophysiology01:29

Heart Failure II: Pathophysiology

Systolic Heart Failure and Compensatory MechanismsSystolic heart failure (also termed HFrEF, Heart Failure with Reduced Ejection Fraction) is the most prevalent type of heart filure. It results in a decreased volume of blood being pumped from the ventricle. The aortic arch and carotid sinuses have baroreceptors that detect reduced blood pressure, triggering the sympathetic nervous system (SNS) to release epinephrine and norepinephrine. Initially, this response aims to boost heart rate and...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
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...