Publications by authors named "A Helgadottir"
Article Synopsis
- Dilated cardiomyopathy (DCM) is a major cause of heart failure, and this study analyzes genetic factors by examining 14,256 DCM cases and 36,203 participants from the UK Biobank for related traits.
- Researchers discovered 80 genomic risk loci and pinpointed 62 potential effector genes tied to DCM, including some linked to rare variants.
- The study uses advanced transcriptomics to explore how cellular functions contribute to DCM, showing that polygenic scores can help predict the disease in the general population and emphasize the importance of genetic testing and development of precise treatments.
Mendelian 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.
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- 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).
Importance: 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.
Background: In 2021, the American College of Medical Genetics and Genomics (ACMG) recommended reporting actionable genotypes in 73 genes associated with diseases for which preventive or therapeutic measures are available. Evaluations of the association of actionable genotypes in these genes with life span are currently lacking.
Methods: We assessed the prevalence of coding and splice variants in genes on the ACMG Secondary Findings, version 3.