A5013591521- Genetic Associations and Epidemiology
- Thyroid Disorders and Treatments
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Ion channel regulation and function
- Lipoproteins and Cardiovascular Health
- Rheumatoid Arthritis Research and Therapies
- Diabetic Foot Ulcer Assessment and Management
- Genomics and Rare Diseases
- Growth Hormone and Insulin-like Growth Factors
- Pericarditis and Cardiac Tamponade
- Atherosclerosis and Cardiovascular Diseases
- Health Systems, Economic Evaluations, Quality of Life
- Liver Disease Diagnosis and Treatment
- Diagnosis and Treatment of Venous Diseases
- Venous Thromboembolism Diagnosis and Management
- Skin Diseases and Diabetes
- Cardiac electrophysiology and arrhythmias
- Hepatitis C virus research
- Eosinophilic Disorders and Syndromes
- Viral Infections and Immunology Research
- Thyroid Cancer Diagnosis and Treatment
- Blood Coagulation and Thrombosis Mechanisms
- RNA Research and Splicing
- Liver Disease and Transplantation
- Hormonal Regulation and Hypertension
Copenhagen University Hospital
2022-2024
University of Copenhagen
2023-2024
Rigshospitalet
2022-2024
Abstract We report a multi-ancestry genome-wide association study on liver cirrhosis and its associated endophenotypes, alanine aminotransferase (ALT) γ-glutamyl transferase. Using data from 12 cohorts, including 18,265 cases with cirrhosis, 1,782,047 controls, up to 1 million individuals function tests validation cohort of 21,689 617,729 we identify validate 14 risk associations for cirrhosis. Many variants are located near genes involved in hepatic lipid metabolism. One these, PNPLA3...
ABSTRACT POPDC2 encodes for the Popeye domain-containing protein 2 which has an important role in cardiac pacemaking and conduction, due part to its cAMP-dependent binding regulation of TREK-1 potassium channels. Loss Popdc2 mice results sinus pauses bradycardia morpholino knockdown popdc2 zebrafish atrioventricular (AV) block. We identified bi-allelic variants 4 families that presented with a phenotypic spectrum consisting node dysfunction, AV conduction defects hypertrophic cardiomyopathy....
Abstract Background Amiodarone is a commonly prescribed antiarrhythmic drug used to manage supraventricular and ventricular arrhythmias. The use of amiodarone associated with broad range adverse effects, including amiodarone-induced hypothyroidism (AIH) or thyrotoxicosis (AIT) (1). Both conditions are linked increased mortality have no known reliable risk predictors (2). Purpose We investigated the genetic underpinnings thyroid disorders, clinical validity utility screening for variants....
<title>Abstract</title> We performed a genome-wide meta-analysis of hypothyroidism (114,813 cases and 1,043,713 controls), free thyroxine (186,409 individuals) thyroid stimulating hormone (459,999 individuals). have identified 326 loci associated with hypothyroidism, including 156 that not been previously reported, 25 linked through hormones. found many the risk regulate levels blood cell counts circulating inflammasome. Using evidence from orthogonal gene-mapping strategies, we prioritized...
Abstract Background Atrial fibrillation (AF) is the most common cardiac arrhythmia, and it's associated with genes responsible for conduction, cardiogenesis, structure. The Finnish population has evolved in relative isolation undergone several bottlenecks, resulting enrichment of deleterious variants. This facilitates identification possible causal through protein-truncating variants that likely would not have been identified other populations. Purpose To identify novel genetic associations...
Abstract Background Amiodarone is a commonly prescribed antiarrhythmic drug used to manage supraventricular and ventricular arrhythmias. The use of amiodarone associated with broad range adverse effects across several organ systems. As many as 10-20% all patients treated develop thyroid dysfunction, most induced hypothyroidism (AIH). (1) Purpose We examined if AIH may have genetic predisposition. Methods conducted the first genome-wide association study using data from large biobank. Cases...
Abstract Background Thyroid disease comprises a joint group of diseases estimated to affect 10% the general adult population [1]. Hypothyroidism is characterized by high Thyroid-Stimulating Hormone (TSH) production and low concentrations Thyroxine (T4). This known increase overall mortality risk cardiovascular (CVD), including heart failure (HF), dyslipidemia, stroke, coronary artery (CAD) [2,3]. Still, association between CVD hypothyroidism seems independent conventional factors. highlights...