Publications by authors named "Hildur Aegisdottir"
Atrial fibrillation (AF) is the most common heart rhythm abnormality and is a leading cause of heart failure and stroke. This large-scale meta-analysis of genome-wide association studies increased the power to detect single-nucleotide variant associations and found more than 350 AF-associated genetic loci. We identified candidate genes related to muscle contractility, cardiac muscle development and cell-cell communication at 139 loci.
View Article and Find Full Text PDFMendelian Randomization studies indicate that BMI contributes to various diseases, but it's unclear if this is entirely mediated by BMI itself. This study examines whether disease risk from BMI-associated sequence variants is mediated through BMI or other mechanisms, using data from Iceland and the UK Biobank. The associations of BMI genetic risk score with diseases like fatty liver disease, knee replacement, and glucose intolerance were fully attenuated when conditioned on BMI, and largely for type 2 diabetes, heart failure, myocardial infarction, atrial fibrillation, and hip replacement.
View Article and Find Full Text PDFArticle Synopsis
- The study aims to investigate the genetic factors associated with accessory atrioventricular pathways (APs) and related heart rhythm disorders using a genome-wide association study (GWAS).
- It involved analyzing genetic data from over 1,200,000 control individuals and 2,310 individuals with APs from multiple countries and various health databases.
- Key findings revealed three significant genetic variants linked to APs, particularly in specific genes (CCDC141 and SCN10A), with implications for understanding conditions like paroxysmal supraventricular tachycardia (PSVT).
encodes for the Popeye domain-containing protein 2 which has an important role in cardiac pacemaking and conduction, due in part to its cAMP-dependent binding and regulation of TREK-1 potassium channels. Loss of in mice results in sinus pauses and bradycardia and morpholino knockdown of zebrafish results in atrioventricular (AV) block. We identified bi-allelic variants in in 4 families that presented with a phenotypic spectrum consisting of sinus node dysfunction, AV conduction defects and hypertrophic cardiomyopathy.
View Article and Find Full Text PDFImportance: Recurrent pericarditis is a treatment challenge and often a debilitating condition. Drugs inhibiting interleukin 1 cytokines are a promising new treatment option, but their use is based on scarce biological evidence and clinical trials of modest sizes, and the contributions of innate and adaptive immune processes to the pathophysiology are incompletely understood.
Objective: To use human genomics, transcriptomics, and proteomics to shed light on the pathogenesis of pericarditis.
Article Synopsis
- Long-QT syndrome (LQTS) is a heart condition that can cause sudden cardiac death and is mainly linked to rare genetic variants in specific genes.
- A study in Iceland identified 12 genetic variants associated with prolonged QTc intervals, revealing a higher carrier frequency than previously thought.
- The study concluded that certain variants, particularly p.Tyr315Cys and p.Leu273Phe, lead to more severe outcomes, which can inform better risk assessment and treatment strategies for patients with QTc prolongation.
Article Synopsis
- This study investigates the genetics of syncope, a common medical condition, to improve understanding of its causes and potential outcomes.
- A large-scale analysis of genetic data from over half a million people identified 18 genetic variants linked to syncope, most of which were newly discovered, highlighting the condition's unique genetic traits.
- The findings suggest a relationship between syncope and cardiovascular health, indicating that genetic factors related to heart rate and blood pressure regulation could be involved, reinforcing the need for careful evaluation of patients experiencing syncope.
Article Synopsis
- The study aimed to explore the genetic basis and risk factors associated with sick sinus syndrome (SSS) using a large dataset of SSS cases and controls.
- Researchers identified six genetic variants linked to SSS, highlighting a specific missense variant in the KRT8 gene that significantly increases risk, particularly in homozygotes.
- The findings suggest a causal relationship between atrial fibrillation (AF) and SSS, while other common factors like body mass index and type 2 diabetes did not show a direct link to SSS risk.
Article Synopsis
- The study aimed to explore the genetic causes of sick sinus syndrome (SSS) and understand risk factors contributing to its development.
- A genome-wide association study involving over 6,000 SSS cases and nearly 1 million controls identified six genetic variants linked to SSS, with a notable missense variant in the KRT8 gene showing a particularly high risk for homozygotes.
- Conclusions suggest that certain genetic factors are associated with SSS, and findings support that atrial fibrillation (AF) may play a causal role in its development, while other common health issues like obesity and diabetes seem unrelated.
Objective: To report the incidence rate of osmotic demyelination syndrome (ODS), associated risk factors, treatment, and long-term outcomes in a nationwide cohort.
Methods: We conducted a retrospective study of individuals diagnosed with central pontine myelinolysis (ICD-10 code G37.2) in the Swedish National Patient Register during 1997-2011.