Eyþór Björnsson
A5101776897- Lipoproteins and Cardiovascular Health
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Cardiovascular Function and Risk Factors
- Cholesterol and Lipid Metabolism
- Genomic variations and chromosomal abnormalities
- Lipid metabolism and disorders
- Cancer, Lipids, and Metabolism
- Cardiovascular Health and Disease Prevention
- RNA and protein synthesis mechanisms
- Cardiovascular Disease and Adiposity
- RNA modifications and cancer
- Cardiomyopathy and Myosin Studies
- Genetic factors in colorectal cancer
- Hemoglobin structure and function
- Drug Transport and Resistance Mechanisms
- Cardiac Imaging and Diagnostics
- Antiplatelet Therapy and Cardiovascular Diseases
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Advanced Causal Inference Techniques
- RNA Research and Splicing
- Congenital heart defects research
- Hemoglobinopathies and Related Disorders
- Pancreatic function and diabetes
deCODE Genetics (Iceland)
2015-2022
University of Iceland
2015-2021
National University Hospital of Iceland
2015-2021
Amgen (Germany)
2019
Faculty (United Kingdom)
2017
Emory University
2015
Reykjavík University
2015
University College London
2015
Lipoprotein(a) [Lp(a)] is a causal risk factor for cardiovascular diseases that has no established therapy. The attribute of Lp(a) affects not established. Low levels have been associated with type 2 diabetes (T2D). This study investigated whether conferred by molar concentration or apolipoprotein(a) [apo(a)] size, and the relationship between T2D causal. was case-control 143,087 Icelanders genetic information, including 17,715 coronary artery disease (CAD) 8,734 T2D. used measured...
To explore whether variability in dietary cholesterol and phytosterol absorption impacts the risk of coronary artery disease (CAD) using as instruments sequence variants ABCG5/8 genes, key regulators intestinal sterols.We examined effects on non-high-density lipoprotein (non-HDL) (N up to 610 532) levels = 3039) CAD Iceland, Denmark, UK Biobank (105 490 cases 844 025 controls). We used genetic scores for non-HDL determine confer greater than predicted by their effect cholesterol. identified...
Genetic studies have evaluated the influence of blood lipid levels on risk coronary artery disease (CAD), but less is known about how they are associated with extent atherosclerosis.To estimate contributions genetically predicted atherosclerosis.This genetic study included Icelandic adults who had undergone angiography or assessment calcium using cardiac computed tomography. The incorporates data collected from January 1987 to December 2017 in Iceland Swedish Coronary Angiography and...
Long-read sequencing (LRS) promises to improve characterization of structural variants (SVs), a major source genetic diversity. We generated LRS data on 3,622 Icelanders using Oxford Nanopore Technologies, and identified median 22,636 SVs per individual (a 13,353 insertions 9,474 deletions), spanning 10 Mb haploid genome. discovered set 133,886 reliably genotyped SV alleles imputed them into 166,281 individuals explore their effects diseases other traits. an association with rare (AF =...
Dilated cardiomyopathy (DCM) is an important cause of heart failure. Variants in >50 genes have been reported to DCM, but causative variants found less than half familial cases. causing DCM Iceland not before.We performed a genome-wide association study on based whole genome sequencing. We tested the 32.5 million sequence 424 cases and 337 689 population controls Iceland.We identified 2 established genes, missense variant p.Phe145Leu NKX2-5 carried by 1 7100 Icelanders ( P=7.0×10-12)...
Background— Studies of recurrent or subsequent disease events may be susceptible to bias caused by selection subjects who both experience and survive the primary indexing event. Currently, magnitude any bias, particularly for time-to-event analysis in genetic association studies, is unknown. Methods Results— We used empirically inspired simulation studies explore impact on marginal hazard ratio risk among those with established coronary heart disease. The extent was determined magnitudes...
Objective: Familial hypercholesterolemia (FH) is traditionally defined as a monogenic disease characterized by severely elevated LDL-C (low-density lipoprotein cholesterol) levels. In practice, FH commonly clinical diagnosis without confirmation of causative mutation. this study, we sought to characterize and compare clinically in large sample Icelanders. Approach Results: We whole-genome sequenced 49 962 Icelanders imputed the identified variants into an overall 166 281 chip-genotyped 20...
Objective— Single-nucleotide polymorphisms predisposing to coronary artery disease (CAD) have been shown predict cardiovascular risk in healthy individuals when combined into a genetic score (GRS). We examined whether the cumulative burden of known variants associated with CAD influences development and progression atherosclerosis. Approach Results— investigated effects all cross-sectional study 8622 Icelandic patients angiographically significant (≥50% diameter stenosis). constructed GRS...
Common sequence variants at the haptoglobin gene (HP) have been associated with blood lipid levels. Through whole-genome sequencing of 8,453 Icelanders, we discovered a splice donor founder mutation in HP (NM_001126102.1:c.190 + 1G > C, minor allele frequency = 0.56%). This occurs on HP1 common copy number variant and leads to loss function HP1. It associates lower levels (P 2.1 × 10-54), higher non-high density lipoprotein cholesterol (β 0.26 mmol/l, P 2.6 10-9) greater risk coronary artery...
Background: Loss-of-function mutations in the LDL (low-density lipoprotein) receptor gene ( LDLR ) cause elevated levels of cholesterol and premature cardiovascular disease. To date, a gain-of-function mutation with large effect on has not been described. Here, we searched for sequence variants that have levels. Methods: We analyzed whole-genome sequencing data from 43 202 Icelanders. Single-nucleotide polymorphisms structural including deletions, insertions, duplications were genotyped...
Abstract Thousands of genomic structural variants (SVs) segregate in the human population and can impact phenotypic traits diseases. Their identification whole-genome sequence data large cohorts is a major computational challenge. Most current approaches identify SVs single genomes afterwards merge identified into joint call set across many genomes. We describe approach PopDel, which directly identifies deletions about 500 to at least 10,000 bp length jointly, eliminating need for subsequent...
Abstract Thousands of genomic structural variants segregate in the human population and can impact phenotypic traits diseases. Their identification whole-genome sequence data large cohorts is a major computational challenge. We describe novel approach, PopDel, which jointly identifies deletions about 500 to at least 10,000 bp length many genomes together. PopDel scales tens thousands as we demonstrate evaluations on up 49,962 genomes. show that reliably reports common, rare de novo...
Background: The ATP-binding cassette (ABC) G5 and G8 transporters, encoded by the ABCG5 ABCG8 (ABCG5/8) genes, have a key role in controlling intestinal absorption of cholesterol other sterols, promoting their hepatobiliary secretion. Here, we use novel rare ABCG5/8 variants, together with common to explore whether variability sterol impacts risk coronary artery disease (CAD). Methods: We examined 41 coding variants for association non-high density lipoprotein (non-HDL) data from Iceland...