The cardiac sodium channel gene SCN5A and its gene product NaV1. 5: Role in physiology and pathophysiology

CC Veerman, AAM Wilde, EM Lodder - Gene, 2015 - Elsevier
The gene SCN5A encodes the main cardiac sodium channel Na V 1.5. This channel
predominates the cardiac sodium current, I Na, which underlies the fast upstroke of the …

Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome

N Earle, DY Han, A Pilbrow, J Crawford, W Smith… - Heart Rhythm, 2014 - Elsevier
Background Disease-modifying single nucleotide polymorphisms (SNPs) can help explain
incomplete penetrance and variable expressivity in congenital long QT syndrome (LQTS) by …

A common variant alters SCN5A–miR-24 interaction and associates with heart failure mortality

X Zhang, JY Yoon, M Morley… - The Journal of …, 2018 - Am Soc Clin Investig
SCN5A encodes the voltage-gated Na+ channel NaV1. 5 that is responsible for
depolarization of the cardiac action potential and rapid intercellular conduction. Mutations …

Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart

TT Koopmann, ME Adriaens, PD Moerland… - PloS one, 2014 - journals.plos.org
In recent years genome-wide association studies (GWAS) have uncovered numerous
chromosomal loci associated with various electrocardiographic traits and cardiac arrhythmia …

Canonical correlation analysis for gene-based pleiotropy discovery

JA Seoane, C Campbell, INM Day… - PLoS computational …, 2014 - journals.plos.org
Genome-wide association studies have identified a wealth of genetic variants involved in
complex traits and multifactorial diseases. There is now considerable interest in testing …

Functional annotation of HOT regions in the human genome: implications for human disease and cancer

H Li, H Chen, F Liu, C Ren, S Wang, X Bo, W Shu - Scientific reports, 2015 - nature.com
Advances in genome-wide association studies (GWAS) and large-scale sequencing studies
have resulted in an impressive and growing list of disease-and trait-associated genetic …

Sex-dichotomous effects of NOS1AP promoter DNA methylation on intracranial aneurysm and brain arteriovenous malformation

Z Wang, J Zhao, J Sun, S Nie, K Li, F Gao, T Zhang… - Neuroscience …, 2016 - Elsevier
The goal of this study was to investigate the contribution of NOS1AP-promoter DNA
methylation to the risk of intracranial aneurysm (IA) and brain arteriovenous malformation …

HAPRAP: a haplotype-based iterative method for statistical fine mapping using GWAS summary statistics

J Zheng, S Rodriguez, C Laurin, D Baird… - …, 2017 - academic.oup.com
Motivation Fine mapping is a widely used approach for identifying the causal variant (s) at
disease-associated loci. Standard methods (eg multiple regression) require individual level …

Genetic markers of repolarization and arrhythmic events after acute coronary syndromes

NJ Earle, KK Poppe, AP Pilbrow, VA Cameron… - American Heart …, 2015 - Elsevier
Background There is a genetic contribution to the risk of ventricular arrhythmias in survivors
of acute coronary syndromes (ACS). We wished to explore the role of 33 candidate single …

[PDF][PDF] Using a Random Forest proximity measure for variable importance stratification in genotypic data.

JA Seoane, INM Day, C Campbell, JP Casas, TR Gaunt - IWBBIO, 2014 - Citeseer
In this work we study variable-significance in classification using the Random Forest
proximity matrix and local Importance matrix. We use the proximity matrix to group the …