Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

12.6K
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...
12.6K
Comparing Copy Number Variations and SNPs02:26

Comparing 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%...
11.6K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

137
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...
137
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

14.6K
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,...
14.6K
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

157
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...
157
Coronary Artery Disease I: Introduction01:30

Coronary Artery Disease I: Introduction

1.8K
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...
1.8K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

On the provenance of spontaneous coronary artery dissection.

European heart journal open·2026
Same author

ZNF827 pleiotropic cardiovascular risk locus involves regulation by nuclear factor-1.

Clinical science (London, England : 1979)·2026
Same author

Mass spectrometric proteome profiling using a deep spectral library reveals homogenization of right and left atrial proteomes in persistent atrial fibrillation patients.

Cardiovascular research·2026
Same author

Retraction.

Science signaling·2026
Same author

The Impact of Fear of Recurrence and Progression on Mental Health after Spontaneous Coronary Artery Dissection: The Role of Illness Uncertainty.

European journal of cardiovascular nursing·2026
Same author

A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia.

European journal of human genetics : EJHG·2026

Related Experiment Video

Updated: Apr 30, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

10.2K

Multi-trait and Gene-Based Analyses Identify Genetic Variants Associated with Spontaneous Coronary Artery Dissection.

Takiy-Eddine Berrandou1, Adrien Georges1, Ingrid Tarr2,3

  • 1Université Paris Cité, PARCC, Inserm, Paris, France.

Medrxiv : the Preprint Server for Health Sciences
|April 29, 2026
PubMed
Summary
This summary is machine-generated.

Spontaneous coronary artery dissection (SCAD) genetics were explored using multi-trait GWAS. This study identified novel genetic loci and pathways, advancing understanding of non-atherosclerotic MI in women.

Keywords:
SCADfunctional genomic annotationsgene-based analysismulti-trait GWASnon-atherosclerotic acute myocardial infarction

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

36.1K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.3K

Related Experiment Videos

Last Updated: Apr 30, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

10.2K
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

36.1K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.3K

Area of Science:

  • Genetics
  • Cardiovascular Research
  • Genomic Epidemiology

Background:

  • Spontaneous coronary artery dissection (SCAD) is a significant, yet under-recognized, cause of acute myocardial infarction (MI), primarily affecting young women.
  • The genetic architecture of SCAD is not well understood, hindering large-scale genome-wide association studies (GWAS).

Purpose of the Study:

  • To investigate the shared genetic basis between SCAD and related vascular diseases.
  • To uncover genetically determined biological mechanisms underlying SCAD.
  • To identify novel genetic loci associated with SCAD.

Main Methods:

  • Harmonization of SCAD GWAS summary statistics with seven related vascular traits.
  • Application of Multi-Trait Analysis of GWAS (MTAG) to identify shared genetic signals.
  • Integration of coronary-artery regulatory annotations, cis-eQTL mapping, and colocalization for gene prioritization.
  • Gene-based testing using LDAK-GBAT on the SCAD dataset.

Main Results:

  • Multi-Trait Analysis of GWAS (MTAG) identified 40 independent SCAD loci, with 24 being novel.
  • Candidate variants were enriched in regulatory regions of coronary smooth muscle cells and fibroblasts.
  • Gene-based testing identified 46 significant genes, implicating pathways in arterial integrity, vasoactive tone, hemostasis, coagulation, extracellular matrix organization, bone mineralization, and TGF-β signaling.

Conclusions:

  • The integration of multi-trait GWAS, gene-based testing, and functional genomics significantly expanded the known genetic landscape of SCAD.
  • Findings highlight key arterial wall pathways beyond extracellular matrix organization, offering insights into non-atherosclerotic dissection mechanisms.
  • These results nominate potential therapeutic targets and support future SCAD risk stratification efforts, particularly in women.