Ásmundur Oddsson
A5078444261- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- RNA modifications and cancer
- Chronic Kidney Disease and Diabetes
- Genetics and Neurodevelopmental Disorders
- Renal Diseases and Glomerulopathies
- Genetic factors in colorectal cancer
- RNA Research and Splicing
- Advanced Proteomics Techniques and Applications
- Epigenetics and DNA Methylation
- Hemoglobinopathies and Related Disorders
- Genetic and Kidney Cyst Diseases
- Cancer-related Molecular Pathways
- Cardiac electrophysiology and arrhythmias
- Metabolism and Genetic Disorders
- Cancer-related gene regulation
- Protein Tyrosine Phosphatases
- Renal and related cancers
- Genomic variations and chromosomal abnormalities
- Immune Cell Function and Interaction
- Connective tissue disorders research
- Asthma and respiratory diseases
- Biomedical Research and Pathophysiology
- Acute Myeloid Leukemia Research
- Cardiomyopathy and Myosin Studies
deCODE Genetics (Iceland)
2016-2025
Amgen (Germany)
2023
Karolinska Institutet
2007-2015
Sequence variants in the parental genomes that are not transmitted to a child (the proband) often ignored genetic studies. Here we show nontransmitted alleles can affect through their impacts on parents and other relatives, phenomenon call "genetic nurture." Using results from meta-analysis of educational attainment, find polygenic score computed for 21,637 probands with at least one parent genotyped has an estimated effect attainment proband is 29.9% (P = 1.6 × 10-14) score. Genetic...
Genetic diversity arises from recombination and de novo mutation (DNM). Using a combination of microarray genotype whole-genome sequence data on parent-child pairs, we identified 4,531,535 crossover recombinations 200,435 DNMs. The resulting genetic map has resolution 682 base pairs. Crossovers exhibit mutagenic effect, with overrepresentation DNMs within 1 kilobase crossovers in males females. In females, higher rate is observed up to 40 kilobases crossovers, particularly for complex which...
Detailed knowledge of how diversity in the sequence human genome affects phenotypic depends on a comprehensive and reliable characterization both sequences variation. Over past decade, insights into this relationship have been obtained from whole-exome sequencing or whole-genome large cohorts with rich data1,2. Here we describe analysis 150,119 individuals UK Biobank3. This constitutes set high-quality variants, including 585,040,410 single-nucleotide polymorphisms, representing 7.0% all...
High-throughput proteomics platforms measuring thousands of proteins in plasma combined with genomic and phenotypic information have the power to bridge gap between genome diseases. Here we performed association studies Olink Explore 3072 data generated by UK Biobank Pharma Proteomics Project
Abstract Gene promoter and enhancer sequences are bound by transcription factors depleted of methylated CpG sites (cytosines preceding guanines in DNA). The absence CpGs these typically correlates with increased gene expression, indicating a regulatory role for methylation. We used nanopore sequencing to determine haplotype-specific methylation rates 15.3 million units 7,179 whole-blood genomes. identified 189,178 where three or more proximal were unmethylated on at least one haplotype. A...
Abstract Kidney stone disease is a complex disorder with strong genetic component. We conducted genome-wide association study of 28.3 million sequence variants detected through whole-genome sequencing 2,636 Icelanders that were imputed into 5,419 kidney cases, including 2,172 cases history recurrent stones, and 279,870 controls. identify associating stones at ALPL (rs1256328[T], odds ratio (OR)=1.21, P =5.8 × 10 −10 ) suggestive CASR (rs7627468[A], OR=1.16, =2.0 −8 ). Focusing our analysis...
Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary immunodeficiency. Here we describe how deficiency CYBC1, previously uncharacterized protein humans (C17orf62), leads reduced expression oxidase's main subunit (gp91phox) and results CGD. Analyzing two brothers diagnosed with CGD identify homozygous loss-of-function mutation, p.Tyr2Ter, CYBC1. Imputation p.Tyr2Ter into 155K chip-genotyped...
AimsAtrial fibrillation (AF) is the most common sustained cardiac arrhythmia in man, causing substantial morbidity and mortality with a major worldwide public health impact. It increasingly recognized as highly heritable condition. This study aimed to determine genetic risk factors for early-onset AF.
Objectives To find causal genes for rheumatoid arthritis (RA) and its seropositive (RF and/or ACPA positive) seronegative subsets. Methods We performed a genome-wide association study (GWAS) of 31 313 RA cases (68% seropositive) ~1 million controls from Northwestern Europe. searched outside the HLA-locus through effect on coding, mRNA expression in several tissues levels plasma proteins (SomaScan) did network analysis (Qiagen). Results found 25 sequence variants overall, 33 2 RA, altogether...
Back pain is a common and debilitating disorder with largely unknown underlying biology. Here we report genome-wide association study of back using diagnoses assigned in clinical practice; dorsalgia (119,100 cases, 909,847 controls) intervertebral disc (IDD) (58,854 922,958 controls). We identify 41 variants at 33 loci. The most significant (OR
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 association these life span currently lacking. We assessed prevalence coding splice variants on ACMG Secondary Findings, version 3.0 (ACMG SF v3.0), list genomes 57,933 Icelanders. assigned pathogenicity to all reviewed using reported evidence ClinVar database, frequency...
Abstract Migraine is a complex neurovascular disease with range of severity and symptoms, yet mostly studied as one phenotype in genome-wide association studies (GWAS). Here we combine large GWAS datasets from six European populations to study the main migraine subtypes, aura (MA) without (MO). We identified four new MA-associated variants (in PRRT2 , PALMD ABO LRRK2 ) classified 13 MO-associated variants. Rare effects highlight three genes. A rare frameshift variant brain-expressed confers...