Genetics of atrial fibrillation in 2020: GWAS, genome sequencing, polygenic risk, and beyond

C Roselli, M Rienstra, PT Ellinor - Circulation research, 2020 - Am Heart Assoc
Atrial fibrillation is a common heart rhythm disorder that leads to an increased risk for stroke
and heart failure. Atrial fibrillation is a complex disease with both environmental and genetic …

Epidemiology of atrial fibrillation: geographic/ecological risk factors, age, sex, genetics

J Zhang, SP Johnsen, Y Guo… - Cardiac …, 2021 - cardiacep.theclinics.com
Atrial fibrillation (AF) is the most common arrhythmia with ever-increasing public health
impact. 1 Over 50 years of observation in the Framingham Heart Study (FHS), there is a 4 …

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

JB Nielsen, RB Thorolfsdottir, LG Fritsche, W Zhou… - Nature …, 2018 - nature.com
To identify genetic variation underlying atrial fibrillation, the most common cardiac
arrhythmia, we performed a genome-wide association study of> 1,000,000 people, including …

Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data

MJ Zhang, K Hou, KK Dey, S Sakaue, KA Jagadeesh… - Nature …, 2022 - nature.com
Single-cell RNA sequencing (scRNA-seq) provides unique insights into the pathology and
cellular origin of disease. We introduce single-cell disease relevance score (scDRS), an …

Association between titin loss-of-function variants and early-onset atrial fibrillation

SH Choi, LC Weng, C Roselli, H Lin, CM Haggerty… - Jama, 2018 - jamanetwork.com
Importance Atrial fibrillation (AF) is the most common arrhythmia affecting 1% of the
population. Young individuals with AF have a strong genetic association with the disease …

Genomics-first evaluation of heart disease associated with titin-truncating variants

CM Haggerty, SM Damrauer, MG Levin, D Birtwell… - Circulation, 2019 - Am Heart Assoc
Background: Truncating variants in the Titin gene (TTNtvs) are common in individuals with
idiopathic dilated cardiomyopathy (DCM). However, a comprehensive genomics-first …

[HTML][HTML] Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation

G Ahlberg, L Refsgaard, PR Lundegaard… - Nature …, 2018 - nature.com
A family history of atrial fibrillation constitutes a substantial risk of developing the disease,
however, the pathogenesis of this complex disease is poorly understood. We perform whole …

[PDF][PDF] The HUNT Study: a population-based cohort for genetic research

BM Brumpton, S Graham, I Surakka, AH Skogholt… - Cell Genomics, 2022 - cell.com
Summary The Trøndelag Health Study (HUNT) is a population-based cohort of∼ 229,000
individuals recruited in four waves beginning in 1984 in Trøndelag County, Norway …

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

P Surendran, EV Feofanova, N Lahrouchi, I Ntalla… - Nature …, 2020 - nature.com
Genetic studies of blood pressure (BP) to date have mainly analyzed common variants
(minor allele frequency> 0.05). In a meta-analysis of up to~ 1.3 million participants, we …

[HTML][HTML] Atrial fibrillation mechanisms and implications for catheter ablation

G Cheniti, K Vlachos, T Pambrun, D Hooks… - Frontiers in …, 2018 - frontiersin.org
AF is a heterogeneous rhythm disorder that is related to a wide spectrum of etiologies and
has broad clinical presentations. Mechanisms underlying AF are complex and remain …