Publications by authors named "A Jonasdottir"
Article Synopsis
- Immunoglobulin G (IgG) is the primary type of antibody in human blood and exists in four subclasses (IgG1 to IgG4), which are influenced by specific genes.
- A genome-wide association study involving 4,334 adults and 4,571 children identified ten new variants and confirmed four known variants linked to IgG subclass levels, affecting conditions like asthma and autoimmune diseases.
- Significant links were found between certain genetic allotypes and specific IgG subclasses, with notable findings showing that lower IgG4 levels can both protect against childhood asthma and increase the risk of inflammatory bowel disease.
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.
Objectives: To study circulating myeloperoxidase (MPO)-positive extracellular vesicles (MPOEVs) exposing citrullinated histone-3 (H3Cit), tissue factor (TF), and plasminogen (Plg) in association to thrombin generation in patients with anti-neutrophil cytoplasm antibody (ANCA)-associated vasculitis (AAV).
Methods: We have involved well-characterized patients with AAV together with population-based controls. Flow cytometry was used to assess the levels of MPOEVs in citrated plasma.
Article Synopsis
- Migraine is a complicated neurovascular condition with varying symptoms, traditionally studied as a single type in genome-wide association studies (GWAS), but this research focuses on two main subtypes: migraine with aura (MA) and migraine without aura (MO).
- The study analyzed large datasets from six European populations, identifying four new gene variants associated with MA and classifying 13 variants for MO, highlighting a significant frameshift variant in PRRT2 linked to MA and epilepsy.
- Additionally, testing on rare variants showed that loss-of-function mutations in SCN11A provide strong protection against migraine, while another variant affecting KCNK5 offers large protection against both migraine and brain aneurysms, suggesting new avenues for treatment.
Article Synopsis
- Marfan syndrome (MFS) is a genetic disorder caused by mutations in the FBN1 gene, leading to serious health issues like aortic aneurysms and skeletal deformities, with Icelandic researchers studying its prevalence and genetic causes.
- The study involved whole-genome sequencing of 27 individuals diagnosed with MFS but lacking confirmed genetic evidence, finding 15 significant variants in the FBN1 gene across 44 individuals, with many undiagnosed prior to this research.
- The most common variant, p.(Arg2680Cys), traced back to a 19th-century ancestor, appears to be linked to a higher occurrence of abdominal aortic aneurysms, suggesting a prevalence of MFS