Related Experiment Video
Updated: May 5, 2026
06:21
Quantitative Fluorescence In Situ Hybridization FISH and Immunofluorescence IF of Specific Gene Products in KSHV-Infected Cells
Published on: August 27, 2019
13.2K
An ACOT4 Multi-Nucleotide Variant Is Associated with Cardiovascular Risk in Norfolk Island and UK Biobank Cohorts
Jacob W I Meyjes-Brown1, Heidi G Sutherland1, Kim Ngan Tran1
1Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology, Brisbane City 4000, QLD, Australia.
Genes
|February 27, 2026
Summary
A novel genetic variant in the ACOT4 gene is linked to lower blood pressure and higher cholesterol, potentially impacting cardiovascular disease risk. This finding offers insights into the genetic regulation of lipid metabolism and heart health.
Area of Science:
- Genetics
- Cardiovascular Disease Research
- Metabolic Syndrome
Background:
- Cholesterol and blood pressure are key cardiovascular disease (CVD) risk factors with genetic components.
- Identifying genetic variants associated with CVD traits is crucial for understanding disease etiology.
Purpose of the Study:
- To identify novel genetic coding variants associated with cholesterol levels and blood pressure.
- To validate these associations in independent cohorts.
Main Methods:
- Leveraged the Norfolk Island Health Study (NIHS) for initial variant discovery.
- Utilized UK Biobank whole exome data for validation of suggestive associations.
- Analyzed associations between genetic variants and CVD/metabolic syndrome traits.
Main Results:
- Identified a novel missense multi-nucleotide variant (MNV) in the ACOT4 gene associated with lipid metabolism.
- The MNV showed consistent associations with lower elevated blood pressure and higher total cholesterol in both NIHS and UK Biobank cohorts.
- In-silico predictions suggest the MNV may destabilize the ACOT4 protein, impacting lipid metabolism pathways.
Conclusions:
- A novel coding MNV in ACOT4 has significant implications for cardiovascular health.
- This variant influences lipid metabolism and blood pressure regulation.
- Further research can explore the genetic regulation of lipid metabolism and its role in CVD.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
11.6K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
11.6K
01:05Single Nucleotide Polymorphisms-SNPs
14.8K
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,...
14.8K
01:27Principles of Pharmacogenetics: Types of Genetic Variants
143
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
143
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
160
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...
160
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
84
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...
84
01:29Pharmacogenomics: Identification of New Drug Targets
129
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...
129