Genome-wide association studies of cardiovascular disease

R Walsh, SJ Jurgens, J Erdmann… - Physiological …, 2023 - journals.physiology.org
Genome-wide association studies (GWAS) aim to identify common genetic variants that are
associated with traits and diseases. Since 2005, more than 5,000 GWAS have been …

Regulatory SNPs: altered transcription factor binding sites implicated in complex traits and diseases

AO Degtyareva, EV Antontseva… - International journal of …, 2021 - mdpi.com
The vast majority of the genetic variants (mainly SNPs) associated with various human traits
and diseases map to a noncoding part of the genome and are enriched in its regulatory …

Transcriptional and cellular diversity of the human heart

NR Tucker, M Chaffin, SJ Fleming, AW Hall… - Circulation, 2020 - Am Heart Assoc
Background: The human heart requires a complex ensemble of specialized cell types to
perform its essential function. A greater knowledge of the intricate cellular milieu of the heart …

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

J Barc, R Tadros, C Glinge, DY Chiang, M Jouni… - Nature …, 2022 - nature.com
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in
young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1. 5 …

Pericardial Delivery of SDF‐1α Puerarin Hydrogel Promotes Heart Repair and Electrical Coupling

L Luo, Y Li, Z Bao, D Zhu, G Chen, W Li… - Advanced …, 2024 - Wiley Online Library
The stromal‐derived factor 1α/chemokine receptor 4 (SDF‐1α/CXCR4) axis contributes to
myocardial protection after myocardial infarction (MI) by recruiting endogenous stem cells …

Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome

N Lahrouchi, R Tadros, L Crotti, Y Mizusawa… - Circulation, 2020 - Am Heart Assoc
Background: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable
cause of sudden cardiac death in the young. A causal rare genetic variant with large effect …

Atrial cardiomyopathy revisited—evolution of a concept: a clinical consensus statement of the European Heart Rhythm Association (EHRA) of the ESC, the Heart …

A Goette, D Corradi, D Dobrev, L Aguinaga… - Europace, 2024 - academic.oup.com
Aims The concept of “atrial cardiomyopathy”(AtCM) had been percolating through the
literature since its first mention in 1972. Since then, publications using the term were …

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

I Ntalla, LC Weng, JH Cartwright, AW Hall… - Nature …, 2020 - nature.com
The electrocardiographic PR interval reflects atrioventricular conduction, and is associated
with conduction abnormalities, pacemaker implantation, atrial fibrillation (AF), and …

Epigenetic and transcriptional networks underlying atrial fibrillation

AF van Ouwerkerk, AW Hall, ZA Kadow… - Circulation …, 2020 - Am Heart Assoc
Genome-wide association studies have uncovered over a 100 genetic loci associated with
atrial fibrillation (AF), the most common arrhythmia. Many of the top AF-associated loci …

Advancing drug development for atrial fibrillation by prioritising findings from human genetic association studies

K Kukendrarajah, AE Farmaki, PD Lambiase… - …, 2024 - thelancet.com
Background Drug development for atrial fibrillation (AF) has failed to yield new approved
compounds. We sought to identify and prioritise potential druggable targets with support …