Asgeir Ö. Arnthórsson
A5008045802- Immunodeficiency and Autoimmune Disorders
- Long-Term Effects of COVID-19
- Hearing, Cochlea, Tinnitus, Genetics
- Diabetes and associated disorders
- Olfactory and Sensory Function Studies
- Ear Surgery and Otitis Media
- COVID-19 and Mental Health
- COVID-19 Clinical Research Studies
- SARS-CoV-2 and COVID-19 Research
- Chronic Lymphocytic Leukemia Research
- melanin and skin pigmentation
- Hearing Loss and Rehabilitation
- Cytokine Signaling Pathways and Interactions
- Systemic Lupus Erythematosus Research
- T-cell and B-cell Immunology
- Lymphoma Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Peptidase Inhibition and Analysis
- Tuberculosis Research and Epidemiology
- Immune Cell Function and Interaction
- Autophagy in Disease and Therapy
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Cellular transport and secretion
- Blood groups and transfusion
deCODE Genetics (Iceland)
2020-2024
Directorate of Health
2020
University of Iceland
2019-2020
National University Hospital of Iceland
2020
Little is known about the nature and durability of humoral immune response to infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).We measured antibodies in serum samples from 30,576 persons Iceland, using six assays (including two pan-immunoglobulin [pan-Ig] assays), we determined that appropriate measure seropositivity was a positive result both pan-Ig assays. We tested 2102 collected 1237 up 4 months after diagnosis by quantitative polymerase-chain-reaction (qPCR)...
Abstract The MITF transcription factor is a master regulator of melanocyte development and critical in melanomagenesis. related factors TFEB TFE3 regulate lysosomal activity autophagy processes known to be important melanoma. Here we show that binds the CLEAR-box element promoters autophagosomal genes melanocytes melanoma cells. crystal structure bound reveals how palindromic nature this motif induces symmetric homodimer binding. In metastatic tumors cell lines, positively correlates with...
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...
Abstract Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities diverse geographic origins, revealing a wide range deafness‐associated variants and enabling clinical characterization the associated phenotypes. Our goal was to identify genetic causes loss this population, determine relationships genotype, phenotype, ethnicity. Genomic DNA...
Abstract Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit observed homozygous carriers variants, versus an expected number in set 153,054 chip-genotyped Icelanders, to identify potentially pathogenic genotypes. We follow three with complete homozygosity and find that their effect state ranges from severe childhood disease early embryonic lethality. One these is CPSF3 , gene not previously linked disease. From clinically sequenced by...
Abstract Memory T-cell responses following SARS-CoV-2 infection have been extensively investigated but many studies small with a limited range of disease severity. Here we analyze reactive in 768 convalescent SARS-CoV-2-infected (cases) and 500 uninfected (controls) Icelanders. The are stable three to eight months after infection, irrespective severity even those the mildest symptoms induce broad persistent responses. Robust CD4 + detected against all measured proteins (M, N, S S1) while N...
Abstract Autoimmune thyroid disease (AITD) is a common autoimmune disease. In GWAS meta-analysis of 110,945 cases and 1,084,290 controls, 290 sequence variants at 225 loci are associated with AITD. Of these variants, 115 previously unreported. Multiomics analysis yields 235 candidate genes outside the MHC-region findings highlight importance involved in T-cell regulation. A rare 5’-UTR variant (rs781745126-T, MAF = 0.13% Iceland) LAG3 has largest effect (OR 3.42, P 2.2 × 10 −16 ) generates...
Persistent symptoms are common after SARS-CoV-2 infection but correlation with objective measures is unclear.We invited all 3098 adults who tested positive in Iceland before October 2020 to the deCODE Health Study. We compared multiple and physical between 1706 Icelanders confirmed prior (cases) participated, 619 contemporary 13,779 historical controls. Cases participated study 5-18 months infection.Here we report that 41 of 88 associated infection, most significantly disturbed smell taste,...
Abstract Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities diverse geographic origins, revealing a wide range deafness-associated variants and enabling clinical characterization the associated phenotypes. Our goal was to identify genetic causes loss this population, determine relationships genotype, phenotype, ethnicity. Genomic DNA...
Abstract Persistent symptoms are common after SARS-CoV-2 infection but the correlation with objective measures is unclear. We utilized deCODE Health Study to compare multiple and physical between 1,721 Icelanders prior (cases) 546 contemporary 13,842 historical controls. Cases participated in study five 17 months acute infection. One percent reported still suffering severe more than a year 46 of 88 explored associated infection, most significantly disturbed smell taste, memory disturbance,...