Publications by authors named "B Torfason"
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.
Long-read sequencing (LRS) promises to improve the characterization of structural variants (SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs per individual (a median of 13,353 insertions and 9,474 deletions). We discovered a set of 133,886 reliably genotyped SV alleles and imputed them into 166,281 individuals to explore their effects on diseases and other traits.
View Article and Find Full Text PDFArticle 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.
Most sequence variants identified hitherto in genome-wide association studies (GWAS) of atrial fibrillation are common, non-coding variants associated with risk through unknown mechanisms. We performed a meta-analysis of GWAS of atrial fibrillation among 29,502 cases and 767,760 controls from Iceland and the UK Biobank with follow-up in samples from Norway and the US, focusing on low-frequency coding and splice variants aiming to identify causal genes. We observe associations with one missense (OR = 1.
View Article and Find Full Text PDFBackground: Unicuspid unicommissural aortic valve is an extremely rare congenital anomaly that usually presents in adulthood but can rarely present in infancy. We report a 17-year-old patient with congenital aortic stenosis secondary to unicuspid unicommissural aortic valve that was successfully treated with aortic valve replacement.
Case Presentation: The patient was diagnosed with aortic stenosis after a murmur was heard in the newborn nursery and subsequently underwent aortic balloon valvuloplasty 6 weeks after birth.