Angiotensin-converting enzyme I/D polymorphism and the risk of thoracic aortic dissection in Chinese Han population

Quanmin Jing1, Xiaozeng Wang, Yingyan Ma

  • 1Cardiovascular Research Institute and Department of Cardiology, Shenyang Northern Hospital, 83 Wenhua Road, Shenyang, China.

Molecular Biology Reports
|October 20, 2012
PubMed

Insights

The I/D polymorphism of the angiotensin-converting enzyme (ACE) gene is associated with an increased risk of thoracic aortic dissection (TAD). This finding suggests ACE gene variations may contribute to TAD development in the Chinese Han population.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Biology
  • Epidemiology

Background:

  • Thoracic aortic dissection (TAD) is a life-threatening cardiovascular condition with a suspected genetic component.
  • The renin-angiotensin system is implicated in the development of aortic diseases.

Purpose of the Study:

  • To investigate the association between the angiotensin-converting enzyme (ACE) I/D polymorphism and the risk of TAD.
  • To evaluate the ACE I/D polymorphism's role in the pathogenesis of TAD within the Chinese Han population.

Main Methods:

  • A hospital-based case-control study was conducted.
  • 161 TAD patients and 256 control subjects were recruited.
  • ACE I/D polymorphism genotyping was performed using polymerase chain reaction (PCR).

Main Results:

  • A significant difference in ACE I/D genotype distribution was observed between TAD patients and controls.
  • Patients with TAD showed a higher frequency of the DD genotype and the D allele of the ACE gene.
  • Multivariate logistic regression revealed a significant association between ACE I/D polymorphism and TAD susceptibility (OR 2.14, P=0.001).

Conclusions:

  • The ACE I/D polymorphism is identified as a potential risk factor for thoracic aortic dissection.
  • Further large-scale population-based studies are warranted to validate these findings and confirm the association.

Related Concept Videos

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...
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...
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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
Antihypertensive Drugs: Angiotensin-Converting Enzyme Inhibitors01:30

Antihypertensive Drugs: Angiotensin-Converting Enzyme Inhibitors

Angiotensin-converting enzyme (ACE), a vital component of the renin-angiotensin-aldosterone system, is abundant in lung endothelial cells. ACE converts the inactive decapeptide, angiotensin I, into the active octapeptide, angiotensin II. This potent vasoconstrictor narrows blood vessels, increasing resistance to blood flow and elevating blood pressure. Angiotensin II also stimulates aldosterone production, encouraging kidney cells to reabsorb more sodium and water from urine, thereby increasing...