Gudny A. Arnadottir
A5060631496- Genomics and Rare Diseases
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Genetic Syndromes and Imprinting
- Connective tissue disorders research
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- RNA and protein synthesis mechanisms
- BRCA gene mutations in cancer
- Lipoproteins and Cardiovascular Health
- Cardiomyopathy and Myosin Studies
- Aortic Disease and Treatment Approaches
- Aortic aneurysm repair treatments
- Nutrition, Genetics, and Disease
- Metabolism and Genetic Disorders
- Ovarian cancer diagnosis and treatment
- Hemoglobinopathies and Related Disorders
- Diabetes and associated disorders
- Chronic Kidney Disease and Diabetes
- Legionella and Acanthamoeba research
- Hereditary Neurological Disorders
deCODE Genetics (Iceland)
2016-2025
University of Iceland
2000-2023
Amgen (Germany)
2022-2023
RMIT University
2023
Directorate of Health
2020
National University Hospital of Iceland
2020
Reykjavík University
2019
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 Understanding of sequence diversity is the cornerstone analysis genetic disorders, population genetics, and evolutionary biology. Here, we present an update our sequencing set to 15,220 Icelanders who sequenced average genome-wide coverage 34X. We identified 39,020,168 autosomal variants passing GATK filters: 31,079,378 SNPs 7,940,790 indels. Calling de novo mutations (DNMs) a formidable challenge given high false positive rate in datasets relative mutation rate. Here addressed this...
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...
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 Creatine kinase (CK) and lactate dehydrogenase (LDH) are widely used markers of tissue damage. To search for sequence variants influencing serum levels CK LDH, 28.3 million identified through whole-genome sequencing 2,636 Icelanders were imputed into 63,159 98,585 people with LDH measurements, respectively. Here we describe 13 associating 16 levels, including four that associate both. Among those, 15 non-synonymous 12 have a minor allele frequency below 5%. We report in genes...
Scavenger receptor Class B Type 1 (SR-BI) is a major for high-density lipoprotein (HDL) that promotes hepatic uptake of cholesterol from HDL. A rare mutation p.P376L, in the gene encoding SR-BI, SCARB1, was recently reported to associate with elevated HDL (HDL-C) and increased risk coronary artery disease (CAD), suggesting HDL-C caused by SR-BI impairment might be an independent marker cardiovascular risk. We tested hypothesis alleles or close SCARB1 levels also CAD relatively homogeneous...
Abstract Microsatellites are polymorphic tracts of short tandem repeats with one to six base-pair (bp) motifs and some the most variants in genome. Using 6084 Icelandic parent-offspring trios we estimate 63.7 (95% CI: 61.9–65.4) microsatellite de novo mutations (mDNMs) per offspring generation, excluding bp (homopolymers) is 48.2 mDNMs 46.7–49.6). Paternal occur at longer than maternal ones, which turn larger a mean size 3.4 vs 3.1 for paternal ones. increase by 0.97 0.90–1.04) 0.31...
Adult height is a highly heritable trait. Here we identified 31.6 million sequence variants by whole-genome sequencing of 8,453 Icelanders and tested them for association with adult imputing into 88,835 Icelanders. discovered 13 novel associations testing four different models including parent-of-origin (|β|=0.4-10.6 cm). The minor alleles three signals associate less only when inherited from the father are located within imprinted regions (IGF2-H19 DLK1-MEG3). We also examined these in set...
Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. Here we describe an Icelandic family with three affected individuals over two generations rare clinical presentation lung disease histological diagnosis follicular bronchiolitis. We performed whole-genome sequencing (WGS) well unaffected members family, searched...
Abstract Age-related hearing impairment (ARHI) is the most common sensory disorder in older adults. We conducted a genome-wide association meta-analysis of 121,934 ARHI cases and 591,699 controls from Iceland UK. identified 21 novel sequence variants, which 13 are rare, under either additive or recessive models. Of special interest missense variant LOXHD1 (MAF = 1.96%) tandem duplication FBF1 covering 4 exons 0.22%) associating with (OR 3.7 for homozygotes, P 1.7 × 10 −22 OR 4.2...
Two-thirds of all human conceptions are lost, in most cases before clinical detection. The lack detailed understanding the causes pregnancy losses constrains focused counseling for future pregnancies. We have previously shown that a missense variant synaptonemal complex central element protein 2 (SYCE2), key residue assembly backbone, associates with recombination traits. Here we show it also increases risk loss genome-wide association analysis on 114,761 women reported loss. further more...
Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use next-generation sequencing has identified large number genes in epileptic encephalopathies, including UBA5 which biallelic mutations were first described as pathogenic 2016 (Colin E et al., Am J Hum Genet 99(3):695-703, 2016. Muona M 99(3):683-694, 2016). encodes an activating enzyme for post-translational modification mechanism known ufmylation, is...
Bipolar disorder is a highly heritable psychiatric disorder; genome-wide association studies of bipolar have yielded over 60 risk loci harboring common variants. To harness the information contained in rare loss-of-function (LOF) variants, holding promise for informing on underlying biology, we performed variant burden analysis using gene-based aggregation LOF variants whole-genome sequencing data from Iceland (4,197 cases, more than 200,000 controls) and UK Biobank (1,881 426,622 controls)....
Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary tract metabolic diseases. Several environmental factors known affect the test results, whereas effects of genetic diversity largely unknown. We tested 32.5 million sequence variants for association with biomarkers a set 150 274 Icelanders urine measurements. detected 20 signals, which 14 novel, associating at least one five clinical entities defined by dipstick: glucosuria, ketonuria, proteinuria,...
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)...
Abstract The corneal endothelium is vital for transparency and proper hydration of the cornea. Here, we conduct a genome-wide association study endothelial cell density (cells/mm 2 ), coefficient size variation (CV), percentage hexagonal cells (HEX) central thickness (CCT) in 6,125 Icelanders find associations at 10 loci, including 7 novel. We assess effects these variants on various ocular biomechanics such as hysteresis (CH), well eye diseases glaucoma dystrophies. Most notably, an...