Chromosome 4q25 Variants Are Genetic Modifiers of Rare Ion Channel Mutations Associated With Familial Atrial Fibrillation

• Published in: Journal of the American College of Cardiology Vol. 60; no. 13; pp. 1173 - 1181
• Main Authors: Ritchie, Marylyn D., Rowan, Shane, Kucera, Gayle, Stubblefield, Tanya, Blair, Marcia, Carter, Shannon, Roden, Dan M., Darbar, Dawood
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 25.09.2012; Elsevier; Elsevier Limited
• Subjects: Adult; Age; Aged; atrial fibrillation; Atrial Fibrillation - genetics; Atrial Natriuretic Factor - genetics; Biological and medical sciences; Cardiac arrhythmia; Cardiac dysrhythmias; Cardiology; Cardiology. Vascular system; Cardiovascular; Cardiovascular disease; Chromosomes; Chromosomes, Human, Pair 4 - genetics; Cohort Studies; Confidence intervals; Genes; Genetic Predisposition to Disease; genetics; Genotype; Genotype & phenotype; Heart; Heart surgery; Homeobox Protein Nkx-2.5; Homeodomain Proteins - genetics; Humans; Ion Channels - genetics; KCNQ1 Potassium Channel - genetics; Kv1.5 Potassium Channel - genetics; Medical sciences; Middle Aged; Mutation - genetics; mutations; NAV1.5 Voltage-Gated Sodium Channel - genetics; Pedigree; Polymorphism, Single Nucleotide - genetics; polymorphisms; Prospective Studies; Registries; Transcription Factors - genetics; atrial fibrillation; genetics; mutations; OR; SNP; AF; DNA; polymorphisms; deoxyribonucleic acid; single nucleotide polymorphism; odds ratio; Arrhythmia; Family study; Heart disease; Atrial fibrillation; Cardiovascular disease; Chromosome; Genetics; Ionic channel; Circulatory system; Mutation; Cardiology; Excitability disorder

The aim of this study was to test the hypothesis that 2 common polymorphisms in the chromosome 4q25 region that have been associated with atrial fibrillation (AF) contribute to the variable penetrance of familial AF. Although mutations in ion channels, gap junction proteins, and signaling molecules...