Related Experiment Video

Updated: May 23, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Polymorphism of the complement 5 gene and cardiovascular outcome in patients with atherosclerosis

Matthias Hoke1, Walter Speidl, Martin Schillinger

  • 1Department of Internal Medicine II, Division of Angiology, Medical University Vienna, Vienna, Austria. matthias.hoke@meduniwien.ac.at

European Journal of Clinical Investigation
|March 29, 2012
PubMed

Insights

The C5 rs17611 GG genotype is linked to higher C5a levels and increased cardiovascular risk in men with carotid atherosclerosis. This finding highlights a genetic risk factor for cardiovascular events in this population.

Area of Science:

  • Cardiovascular Science
  • Genetics
  • Immunology

Background:

  • Inflammation, particularly the complement system, plays a role in atherosclerosis.
  • A prior study linked the C5 rs17611 single-nucleotide polymorphism (SNP) to stroke.
  • The effect of C5 rs17611 on atherosclerosis progression and cardiovascular outcomes in asymptomatic patients was unknown.

Purpose of the Study:

  • To investigate the association between the C5 rs17611 polymorphism and cardiovascular outcomes.
  • To determine if C5 rs17611 influences the progression of carotid atherosclerosis.
  • To explore the relationship between C5 rs17611 and C5a plasma levels.

Main Methods:

  • A cohort of 1065 patients with asymptomatic carotid atherosclerosis was studied.
  • Patients were followed prospectively for carotid atherosclerosis progression and major adverse cardiovascular events (MACE).
  • Genotyping for C5 rs17611 and plasma C5a levels were analyzed.

Main Results:

  • The homozygous C5 rs17611 GG genotype was associated with an increased risk of MACE (adjusted HR: 1.36).
  • In men, the C5 rs17611 CC genotype was an independent risk factor for MACE (HR 1.50).
  • No association was found between C5 rs17611 and carotid stenosis progression, but the variant correlated with C5a plasma levels.

Conclusions:

  • The C5 rs17611 GG genotype is linked to elevated C5a plasma levels.
  • This genotype represents a risk factor for adverse cardiovascular outcomes, particularly in male patients with carotid atherosclerosis.
Abstract

More Related Videos

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

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...
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...
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...
Complementation Tests00:49

Complementation Tests

A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...
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...