Publications by authors named "Bjornsdottir G"
Mendelian Randomization studies indicate that BMI contributes to various diseases, but it's unclear if this is entirely mediated by BMI itself. This study examines whether disease risk from BMI-associated sequence variants is mediated through BMI or other mechanisms, using data from Iceland and the UK Biobank. The associations of BMI genetic risk score with diseases like fatty liver disease, knee replacement, and glucose intolerance were fully attenuated when conditioned on BMI, and largely for type 2 diabetes, heart failure, myocardial infarction, atrial fibrillation, and hip replacement.
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- The study investigates the risk factors and comorbidities related to trigeminal neuralgia, a painful condition affecting facial nerves, highlighting its higher prevalence in women.
- Utilizing data from 7.2 million individuals in Denmark from 1994 to 2018, researchers compared those with trigeminal neuralgia against 10,000 controls to find associated diseases, revealing 27 potential comorbidities linked with the condition.
- It was found that treatment with carbamazepine or oxcarbazepine heightened the risk of ischemic stroke, indicating that healthcare providers should assess vascular risks in patients diagnosed with trigeminal neuralgia.
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- - Parkinson's disease (PD) is a serious neurodegenerative disorder, and rising cases emphasize the need to identify factors that can be changed to reduce risk.
- - A study involving 8,647 PD patients and 777,693 controls identified a new link between rare ITSN1 gene variants and PD, supported by other research databases.
- - The research suggests that issues with Rho GTPases and synaptic vesicle transport might play a role in PD development, indicating potential new treatment strategies.
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- Essential tremor (ET) is a common neurological disorder, but its biological causes are still not well understood.
- A comprehensive study involving over 16,000 ET cases identified 12 genetic variants linked to the disorder, suggesting several potential causal genes, including CA3 and CPLX1.
- The findings also reveal associations between ET and other conditions like Parkinson's disease, depression, and anxiety, which could lead to new therapeutic targets for treatment.
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- Nonalcoholic fatty liver disease (NAFLD) is a prevalent chronic liver condition linked with obesity, type 2 diabetes, and metabolic syndrome, which increases cardiovascular disease risk, but lifestyle changes can enhance health outcomes.
- This study evaluated a 12-week digital health program aimed at improving engagement, retention, and user satisfaction while monitoring health changes related to weight and metabolic factors among individuals with NAFLD, obesity, or diabetes.
- Among the 38 participants, 89% completed the program, reporting high satisfaction (median score of 6.3/7), with an average weight loss of 3.5 kg and notable improvements in overall metabolic health indicators.
Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of 45,510 Icelandic and 130,709 UK Biobank participants combined with a mutational barcode method, we identified 16,306 people with CH. Prevalence approaches 50% in elderly participants.
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- Migraine is a complicated neurovascular condition with varying symptoms, traditionally studied as a single type in genome-wide association studies (GWAS), but this research focuses on two main subtypes: migraine with aura (MA) and migraine without aura (MO).
- The study analyzed large datasets from six European populations, identifying four new gene variants associated with MA and classifying 13 variants for MO, highlighting a significant frameshift variant in PRRT2 linked to MA and epilepsy.
- Additionally, testing on rare variants showed that loss-of-function mutations in SCN11A provide strong protection against migraine, while another variant affecting KCNK5 offers large protection against both migraine and brain aneurysms, suggesting new avenues for treatment.
Objective: The objective of this study was to aggregate data for the first genomewide association study meta-analysis of cluster headache, to identify genetic risk variants, and gain biological insights.
Methods: A total of 4,777 cases (3,348 men and 1,429 women) with clinically diagnosed cluster headache were recruited from 10 European and 1 East Asian cohorts. We first performed an inverse-variance genomewide association meta-analysis of 4,043 cases and 21,729 controls of European ancestry.
Urticaria is a skin disorder characterized by outbreaks of raised pruritic wheals. In order to identify sequence variants associated with urticaria, we performed a meta-analysis of genome-wide association studies for urticaria with a total of 40,694 cases and 1,230,001 controls from Iceland, the UK, Finland, and Japan. We also performed transcriptome- and proteome-wide analyses in Iceland and the UK.
View Article and Find Full Text PDFBackground: Persistent symptoms are common after SARS-CoV-2 infection but correlation with objective measures is unclear.
Methods: We invited all 3098 adults who tested SARS-CoV-2 positive in Iceland before October 2020 to the deCODE Health Study. We compared multiple symptoms and physical measures between 1706 Icelanders with confirmed prior infection (cases) who participated, and 619 contemporary and 13,779 historical controls.
A diagnostic reference level (DRL) is an investigation level to use in the optimization of a medical exposure using ionizing radiation. The aim of this project was to gather dose data from computed tomography (CT) studies in Iceland with the purpose of updating existing national DRL and proposing DRLs based on clinical indications. Dose data (total dose length product (DLP) and CT dose index) were retrospectively collected from all CT scanners in Iceland for 50 patients for all common CT studies.
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- Tobacco and alcohol use contribute significantly to global mortality rates, with heritability playing a key role in these behaviors.
- This study utilized genetic data from a diverse population of 3.4 million individuals, including 21% non-European ancestry, to identify genetic variants linked to tobacco and alcohol use.
- Findings showed that while increased genetic diversity improved the identification of genomic loci, polygenic risk scores were less effective across different ancestries, underscoring the need for larger and more diverse genetic datasets for better predictive outcomes.
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- Intracranial volume (ICV), measured through MRI or head circumference, is hereditary and linked to cognitive abilities and neurological disorders.
- A genome-wide association study identified 64 genetic variants associated with ICV, explaining about 5% of its variation and pointing to 12 key genes involved in cranial conditions.
- The study found that ICV is connected to brain region sizes and various traits, with Parkinson's disease linked to larger ICV and attention deficit hyperactivity disorder (ADHD) associated with smaller ICV.
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- Osteoarthritis is a common disease influenced by genetics, but its impact on disease progression and the need for joint replacement is not well understood.
- * This study analyzed over 700,000 individuals, comparing genetic variants in patients with and without joint replacements for knee and hip osteoarthritis.
- * Findings revealed 52 genetic variants linked to osteoarthritis, with variations in associations based on whether patients had surgery, suggesting distinct genetic influences on disease outcomes.*
Introduction: Educational attainment is related to improved health and longevity. We investigated the relationship between educational attainment and cardiovascular risk factors, subclinical atherosclerosis, and incidence of coronary artery disease.
Material And Methods: The Reykjavik REFINE study is a population-based study recruiting 6616 subjects, 25-69 years of age from the greater Reykjavik area in 2005-2011.
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- Carpal tunnel syndrome (CTS) is the most common nerve entrapment issue, and the biological reasons behind it are still not fully understood.
- A large study involving nearly 50,000 CTS cases identified 53 genetic variants linked to the condition, with a specific gene variant (p.Glu366Lys in SERPINA1) showing protective effects against CTS.
- The research indicates that CTS risk is influenced by 22 genes and highlights the extracellular matrix's importance, along with the genetic connections to traits like height and BMI, as well as factors such as hormonal therapy and osteoarthritis.
Background And Aims: Coronary artery calcium (CAC) and carotid plaque are markers of atherosclerosis and predict future coronary heart disease (CHD) events. The aim of this study was to investigate associations between CAC and carotid plaque in asymptomatic individuals, also in relation to predicted CHD-risk and incident events. A secondary aim was to compare predictive value between CAC, carotid plaque, and total carotid plaque area (TPA) as predictors for future CHD-events.
View Article and Find Full Text PDFMigraine affects over a billion individuals worldwide but its genetic underpinning remains largely unknown. Here, we performed a genome-wide association study of 102,084 migraine cases and 771,257 controls and identified 123 loci, of which 86 are previously unknown. These loci provide an opportunity to evaluate shared and distinct genetic components in the two main migraine subtypes: migraine with aura and migraine without aura.
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- Back pain is prevalent and complex, with this study exploring its genetic links through a genome-wide association approach involving nearly 120,000 cases of dorsalgia and about 59,000 of intervertebral disc disorder.
- Researchers identified 41 genetic variants across 33 different locations, with the strongest correlation to a specific variant in the CHST3 gene that impacts intervertebral discs.
- The study highlights that certain rare loss-of-function variants in the SLC13A1 gene may contribute significantly to intervertebral disc disorders, pointing to genetic factors that influence cartilage, bone health, and related inflammatory processes.
Vertigo is the leading symptom of vestibular disorders and a major risk factor for falls. In a genome-wide association study of vertigo (N = 48,072, N = 894,541), we uncovered an association with six common sequence variants in individuals of European ancestry, including missense variants in ZNF91, OTOG, OTOGL, and TECTA, and a cis-eQTL for ARMC9. The association of variants in ZNF91, OTOGL, and OTOP1 was driven by an association with benign paroxysmal positional vertigo.
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- Malignant hyperthermia (MH) is a rare but potentially deadly disorder triggered by certain agents, mainly due to specific genetic variants in the RYR1 and CACNA1S genes.
- A case study is presented involving a 10-year-old with a suspected MH episode who has a likely pathogenic variant in RYR1, which appears to be unique to a small family cluster and not found in a large population dataset.
- Research on whole-genome sequencing of 62,240 Icelanders revealed 13 actionable variants in RYR1, indicating that approximately 1 in 1450 individuals carry these variants, emphasizing the importance of genetic testing to prevent MH incidents during anesthesia.
Osteoarthritis affects over 300 million people worldwide. Here, we conduct a genome-wide association study meta-analysis across 826,690 individuals (177,517 with osteoarthritis) and identify 100 independently associated risk variants across 11 osteoarthritis phenotypes, 52 of which have not been associated with the disease before. We report thumb and spine osteoarthritis risk variants and identify differences in genetic effects between weight-bearing and non-weight-bearing joints.
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