Related Experiment Video

Updated: Feb 16, 2026

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
09:38

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease

Published on: November 14, 2017

15.8K

Association Between APOL1 Genotypes and Risk of Cardiovascular Disease in MESA (Multi-Ethnic Study of

Teresa K Chen1, Ronit Katz2, Michelle M Estrella3,4

  • 1Division of Nephrology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD tchen39@jhmi.edu.

Journal of the American Heart Association
|December 23, 2017
PubMed

Insights

APOL1 high-risk variants are linked to a higher risk of heart failure in Black individuals. These genetic factors did not show a significant association with subclinical or atherosclerotic cardiovascular disease (CVD).

Area of Science:

  • Genetics
  • Cardiology
  • Nephrology

Background:

  • APOL1 genetic variants are established risk factors for kidney disease.
  • The association between APOL1 variants and cardiovascular disease (CVD) requires further investigation.
  • This study focuses on self-identified Black participants within the Multi-Ethnic Study of Atherosclerosis (MESA) cohort.

Purpose of the Study:

  • To compare the prevalence of subclinical CVD across different APOL1 genotypes.
  • To assess the incidence of atherosclerotic CVD and heart failure based on APOL1 genotypes.
  • To investigate the role of hypertension and kidney function in mediating these associations.

Main Methods:

  • Cross-sectional analysis of APOL1 genotypes (high-risk vs. low-risk) and subclinical CVD markers (coronary artery calcification, carotid-intimal media thickness, left ventricular mass).
  • Longitudinal analysis using Cox regression to evaluate incident atherosclerotic CVD and heart failure.
  • Adjustment for covariates including African ancestry, age, sex, hypertension, and kidney function markers.

Main Results:

  • No significant differences in subclinical CVD prevalence or severity were observed between APOL1 high-risk and low-risk groups.
  • APOL1 high-risk individuals demonstrated an 82% increased likelihood of developing incident heart failure.
  • Hypertension partially attenuated the association between APOL1 risk variants and heart failure, while kidney function markers did not.

Conclusions:

  • APOL1 high-risk variants may increase the risk of incident heart failure in Black individuals without baseline CVD.
  • No significant association was found between APOL1 high-risk variants and subclinical or incident clinical atherosclerotic CVD.
  • These findings highlight a potential genotype-specific risk for heart failure among Black populations.
Abstract

Keywords:
APOL1Multi‐Ethnic Study of Atherosclerosiscardiovascular diseasecoronary artery calciumheart failure

More Related Videos

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

8.8K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.9K

Related Concept Videos

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...
1.2K
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...
10
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...
15.8K
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...
9
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...
15
Atherosclerosis III: Management01:26

Atherosclerosis III: Management

Management of atherosclerosis involves an integrated strategy encompassing pharmacological treatment, surgical interventions, lifestyle changes, and nutrition therapy to address the multifactorial nature of the disease.Pharmacological TherapyA cornerstone of atherosclerosis management is the use of pharmacological agents. Statins, such as atorvastatin, are pivotal in inhibiting HMG-CoA reductase, an enzyme that catalyzes an initial step in cholesterol synthesis in the liver. This reduction in...
459