Mie Topholm Bruun
A5000584345- Blood donation and transfusion practices
- Blood transfusion and management
- Genetic Associations and Epidemiology
- Blood groups and transfusion
- Organ Donation and Transplantation
- Head and Neck Cancer Studies
- Hemoglobinopathies and Related Disorders
- Migraine and Headache Studies
- COVID-19 Clinical Research Studies
- Dermatology and Skin Diseases
- Hidradenitis Suppurativa and Treatments
- SARS-CoV-2 and COVID-19 Research
- Sympathectomy and Hyperhidrosis Treatments
- Metabolism and Genetic Disorders
- COVID-19 and Mental Health
- Biomedical Research and Pathophysiology
- Parkinson's Disease Mechanisms and Treatments
- Venous Thromboembolism Diagnosis and Management
- Hepatitis C virus research
- Contact Dermatitis and Allergies
- Health disparities and outcomes
- Restless Legs Syndrome Research
- Circadian rhythm and melatonin
- Trigeminal Neuralgia and Treatments
- Treatment of Major Depression
Odense University Hospital
2016-2025
University of Southern Denmark
2012-2025
University of Tartu
2024
University of Exeter
2024
Digital Research Alliance of Canada
2017
National Blood Clot Alliance
2017
Kongsberg Innovasjon (Norway)
2015
Abstract We report a multi-ancestry genome-wide association study on liver cirrhosis and its associated endophenotypes, alanine aminotransferase (ALT) γ-glutamyl transferase. Using data from 12 cohorts, including 18,265 cases with cirrhosis, 1,782,047 controls, up to 1 million individuals function tests validation cohort of 21,689 617,729 we identify validate 14 risk associations for cirrhosis. Many variants are located near genes involved in hepatic lipid metabolism. One these, PNPLA3...
Introduction of the Omicron variant caused a steep rise in SARS-CoV-2 infections despite high vaccination coverage Danish population. We used blood donor serosurveillance to estimate percentage recently infected residents similarly aged background population with no known comorbidity.To detect antibodies induced due recent infection, and not vaccination, we assessed anti-nucleocapsid (anti-N) immunoglobulin G (IgG) samples. Individual level data on RT-PCR results status were available....
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
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...
Blood transfusion is an essential component of a modern healthcare system. Because knowledge about blood donor demography may inform the design strategies for recruitment and retention, we used nationwide registers to characterize entire population donors in Denmark 2010.The study comprised all Danes age range eligible donation (N = 3,236,753) at end 2010. From Scandinavian Donations Transfusions (SCANDAT) register, identified 174,523 persons who donated Danish banks least once The...
Abstract Febrile seizures represent the most common type of pathological brain activity in young children and are influenced by genetic, environmental developmental factors. In a minority cases, febrile precede later development epilepsy. We conducted genome-wide association study 7635 cases 83 966 controls identifying replicating seven new loci, all with P < 5 × 10−10. Variants at two loci were functionally related to altered expression fever response genes PTGER3 IL10, four other...
Abstract Aims The aim of this study was to use human genetics investigate the pathogenesis sick sinus syndrome (SSS) and role risk factors in its development. Methods results We performed a genome-wide association 6469 SSS cases 1 000 187 controls from deCODE genetics, Copenhagen Hospital Biobank, UK HUNT study. Variants at six loci associated with SSS, reported missense variant MYH6, known atrial fibrillation (AF)/electrocardiogram variants PITX2, ZFHX3, TTN/CCDC141, SCN10A low-frequency...
Abstract Genome-wide association studies (GWASs) may help inform treatments for infertility, whose causes remain unknown in many cases. Here we present GWAS meta-analyses across six cohorts male and female infertility up to 41,200 cases 687,005 controls. We identified 21 genetic risk loci ( P ≤5E-08), of which 12 have not been reported any reproductive condition. found positive correlations between endometriosis all-cause r g =0.585, =8.98E-14), polycystic ovary syndrome anovulatory =0.403,...
Abstract Background The emerging use of biomarkers in research and tailored care introduces a need for information about the association between basic demographics lifestyle factors revealing expectable concentrations healthy individuals while considering general demographic differences. Methods A selection 47 biomarkers, including markers inflammation vascular stress, were measured plasma samples from 9876 Danish Blood Donor Study participants. Using regression models, we examined sex, age,...
An abstract is not available for this content so a preview has been provided. As you have access to content, full PDF via the 'Save PDF' action button.
Polygenic risk scores (PRSs) are expected to play a critical role in precision medicine. Currently, PRS predictors generally based on linear models using summary statistics, and more recently individual-level data. However, these mainly capture additive relationships limited data modalities they can use. We developed deep learning framework (EIR) for prediction which includes model, genome-local-net (GLN), specifically designed large-scale genomics The supports multi-task learning, automatic...
Abnormal plasma sodium concentration represents an imbalance of total body water relative to electrolyte content. Hyponatremia is a common and potentially severe adverse event, thiazide diuretics constitute leading cause drug-induced hyponatremia. We conducted genome-wide association study analyses concentration, thiazide-induced decrease in hyponatremia 188,464 individuals European ancestry . Additionally, we tested for gene-environment interaction between polygenic score developed exposure...