Related Experiment Video

Updated: Mar 2, 2026

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
10:56

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

8.6K

The 9p21.3 locus and cardiovascular risk in familial hypercholesterolemia

Martine Paquette1, Michael Chong2, Yascara Grisel Luna Saavedra1

  • 1Nutrition, Metabolism and Atherosclerosis Clinic, Institut de recherches cliniques de Montréal, Québec, Canada.

Journal of Clinical Lipidology
|May 16, 2017
PubMed

Insights

Genetic variants at the 9p21.3 locus increase atherosclerotic cardiovascular disease (ASCVD) risk. This study found the rs1333047 SNP significantly elevates ASCVD susceptibility in familial hypercholesterolemia (FH) patients.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Pharmacogenomics

Background:

  • The 9p21.3 locus harbors a significant genetic risk factor for atherosclerotic cardiovascular disease (ASCVD) in the general population.
  • The impact of 9p21.3 polymorphisms on ASCVD risk in familial hypercholesterolemia (FH) patients remains unstudied.

Purpose of the Study:

  • To investigate the association between the 9p21.3 single nucleotide polymorphism (SNP) rs1333047 and ASCVD susceptibility in FH subjects.
  • To determine if genetic screening for rs1333047 can identify high-risk FH patients.

Main Methods:

  • Screened 20,434 Caucasian patients with dyslipidemia, including 725 with FH.
  • Analyzed the association of the rs1333047 risk allele (T) with ASCVD risk using an additive model.
  • Adjusted for traditional cardiovascular risk factors in the analysis.

Main Results:

  • Carrying the rs1333047 risk allele was associated with a 42% increased ASCVD susceptibility per allele (OR=1.42; P=.02).
  • Individuals with the TT genotype had a higher average number of cardiovascular events (0.83) compared to AA carriers (0.53).
  • The mean age of the first ASCVD event did not differ significantly across genotypes.

Conclusions:

  • The 9p21.3 SNP rs1333047 is associated with increased ASCVD risk in FH patients.
  • Genetic screening for rs1333047 can identify FH individuals at very high risk for ASCVD.
  • Early identification may enable more aggressive preventive strategies for high-risk FH patients.
Abstract

Keywords:
9p21.3ANRILCardiovascular diseaseFamilial hypercholesterolemiaLDL-C

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

4.3K
LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring08:45

LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring

Published on: November 17, 2018

14.2K

Related Concept Videos

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...
53
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
59.2K
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...
817
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...
578
Cholesterol: Significance and Regulation01:29

Cholesterol: Significance and Regulation

Although not a source of energy, cholesterol plays a significant role as a foundational structure for bile salts, steroid hormones, and vitamin D, as well as being a crucial component of plasma membranes. Approximately 15% of blood cholesterol is derived from our diet, with the remainder synthesized from acetyl CoA by the liver and intestines. Cholesterol is eliminated from the body through its conversion into bile salts, which are eventually discarded in the feces.
Considering cholesterol and...
1.7K
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
69.6K