Publications by authors named "A Magnusdottir"
Aims: Coarctation of the aorta (CoA) accounts for 4-8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition. The aim of the study was to search for sequence variants that affect the risk of CoA.
View Article and Find Full Text PDFCyclosporine A (CyA) is a lipophilic oligopeptide that has a very limited solubility in water of only 0.008 mg/ml at ambient temperature. It has the ability to form inclusion complexes with cyclodextrin (CD) whose complexes can self-assemble to form aggregates.
View Article and Find Full Text PDFBackground: Genome-wide association studies (GWAS) have yielded variants at >30 loci that associate with atrial fibrillation (AF), including rare coding mutations in the sarcomere genes MYH6 and MYL4.
Objectives: The aim of this study was to search for novel AF associations and in doing so gain insights into the mechanisms whereby variants affect AF risk, using electrocardiogram (ECG) measurements.
Methods: The authors performed a GWAS of 14,255 AF cases and 374,939 controls, using whole-genome sequence data from the Icelandic population, and tested novel signals in 2,002 non-Icelandic cases and 12,324 controls.
Article Synopsis
- A genome-wide association study was conducted on total hip replacements among 4,657 Icelandic patients and 207,514 controls, revealing two significant genetic variants linked to osteoarthritis.
- The first variant is a rare missense mutation in the COMP gene, while the second is a frameshift mutation in the CHADL gene, which is inherited recessively.
- Individuals carrying these mutations underwent hip replacement surgeries significantly earlier, with average differences of 13.5 years for the COMP mutation and 4.9 years for the CHADL mutation.