Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation Running title: Hayashi et al. Functional characterization of lone AF variants
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چکیده
Background-Few rare variants in atrial fibrillation (AF)-associated genes have been
منابع مشابه
Functional Characterization of Rare Variants Implicated in Susceptibility to Lone Atrial Fibrillation.
BACKGROUND Few rare variants in atrial fibrillation (AF)-associated genes have been functionally characterized to identify a causal relationship between these variants and development of AF. We here sought to determine the clinical effect of rare variants in AF-associated genes in patients with lone AF and characterized these variants electrophysiologically and bioinformatically. METHODS AND ...
متن کاملExamining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: a cautionary note.
BACKGROUND Studies in individuals or small kindreds have implicated rare variants in 25 different genes in lone and familial atrial fibrillation (AF) using linkage and segregation analysis, functional characterization, and rarity in public databases. Here, we used a cohort of 20 204 patients of European or African ancestry with electronic medical records and exome chip data to compare the frequ...
متن کاملCommon and rare variants in SCN10A modulate the risk of atrial fibrillation.
BACKGROUND Genome-wide association studies have shown that the common single nucleotide polymorphism rs6800541 located in SCN10A, encoding the voltage-gated Nav1.8 sodium channel, is associated with PR-interval prolongation and atrial fibrillation (AF). Single nucleotide polymorphism rs6800541 is in high linkage disequilibrium with the nonsynonymous variant in SCN10A, rs6795970 (V1073A, r(2)=0....
متن کاملHigh prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation.
BACKGROUND Atrial fibrillation (AF) is the most common cardiac arrhythmia. The cardiac sodium channel, Na(V)1.5, plays a pivotal role in setting the conduction velocity and the initial depolarization of the cardiac myocytes. We hypothesized that early-onset lone AF was associated with genetic variation in SCN5A. METHODS AND RESULTS The coding sequence of SCN5A was sequenced in 192 patients wi...
متن کاملAtrial fibrillation (AF) carries a significant risk of stroke and heart failure and is associated with substantial morbidity and mortality
332 INTRODUCTION Atrial fibrillation (AF) carries a significant risk of stroke and heart failure and is associated with substantial morbidity and mortality (Feinberg et al., 1995; Stewart et al., 2002). Up to 30% of patients with AF have a family history of the condition, suggesting that the disease has a broad genetic basis (Darbar, 2008; Lubitz et al., 2010; Miyasaka et al., 2006). Cases of ‘...
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