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

13.2K
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...
13.2K

You might also read

Related Articles

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

Sort by
Same author

Resistant Hypertension Variants Link to Hyperaldosteronism and Potassium Levels.

Hypertension (Dallas, Tex. : 1979)·2026
Same author

Carbon Nanotube-Based Multi-Functional "Yin"-"Yang" Film: Dual Applications in Solar Water Evaporation and Blue Energy Harvesting.

Small (Weinheim an der Bergstrasse, Germany)·2026
Same author

The future of endodontic diagnosis: A narrative review focusing on biological markers.

JADA foundational science·2026
Same author

[Congenital insensitivity to pain caused by a novel SCN9A-genotype].

Laeknabladid·2026
Same author

21 novel pathogenic variants identified in a cohort of 77 Chinese families with osteogenesis imperfecta.

Frontiers in genetics·2026
Same author

Recommended Guidelines of the American Association of Endodontists for the Treatment of Traumatic Dental Injuries.

Journal of endodontics·2026

Related Experiment Video

Updated: Jun 14, 2025

Electrophysiological Assessment of Murine Atria with High-Resolution Optical Mapping
08:19

Electrophysiological Assessment of Murine Atria with High-Resolution Optical Mapping

Published on: February 22, 2018

9.8K

Genome-Wide Association Study of Accessory Atrioventricular Pathways.

Hildur M Aegisdottir1,2, Laura Andreasen3,4, Rosa B Thorolfsdottir1

  • 1deCODE Genetics, Reykjavik, Iceland.

JAMA Cardiology
|September 4, 2024
PubMed
Summary

Genetic variants in CCDC141 and SCN10A are linked to accessory atrioventricular pathways (APs) and related arrhythmias like PSVT and AF. These findings may guide future antiarrhythmic therapies.

More Related Videos

Optimization of Transesophageal Atrial Pacing to Assess Atrial Fibrillation Susceptibility in Mice
08:05

Optimization of Transesophageal Atrial Pacing to Assess Atrial Fibrillation Susceptibility in Mice

Published on: June 29, 2022

2.7K
Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
11:33

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

Published on: March 12, 2013

13.4K

Related Experiment Videos

Last Updated: Jun 14, 2025

Electrophysiological Assessment of Murine Atria with High-Resolution Optical Mapping
08:19

Electrophysiological Assessment of Murine Atria with High-Resolution Optical Mapping

Published on: February 22, 2018

9.8K
Optimization of Transesophageal Atrial Pacing to Assess Atrial Fibrillation Susceptibility in Mice
08:05

Optimization of Transesophageal Atrial Pacing to Assess Atrial Fibrillation Susceptibility in Mice

Published on: June 29, 2022

2.7K
Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
11:33

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes

Published on: March 12, 2013

13.4K

Area of Science:

  • Cardiovascular Genetics
  • Electrophysiology
  • Genomics

Background:

  • Genetic underpinnings of accessory atrioventricular pathways (APs) and associated arrhythmias remain poorly understood.
  • Identifying genetic factors is crucial for understanding disease mechanisms and developing targeted therapies.

Purpose of the Study:

  • To investigate the genetic basis of accessory atrioventricular pathways (APs) and their associated arrhythmias using a genome-wide association study (GWAS).

Main Methods:

  • A large-scale GWAS was conducted on individuals with APs, defined by ICD codes or electrophysiology (EP) confirmation.
  • Genome-wide significant variants were tested for association with AP-affiliated arrhythmias (PSVT, AF) and cardiac physiology measures.
  • Multi-national cohorts from Iceland, Denmark, the US, and the UK were included, with data spanning from 1983 to 2022.

Main Results:

  • Three common missense variants in CCDC141 and SCN10A were significantly associated with APs.
  • These variants also showed associations with paroxysmal supraventricular tachycardia (PSVT) and atrial fibrillation (AF), confirming their role in AP-affiliated arrhythmias.
  • AP risk alleles correlated with higher heart rate and shorter PR interval, suggesting a role in cardiac conduction and chronotropic response.

Conclusions:

  • Sequence variants in CCDC141 and SCN10A are associated with APs and influence the risk of related arrhythmias like PSVT and AF.
  • Genetic variations affecting heart rate modulation and atrioventricular conduction may contribute to AP-affiliated arrhythmias.
  • Further research into CCDC141 could offer novel therapeutic targets for managing APs and related arrhythmias.