Publications by authors named "Thomassen J"

Article Synopsis
  • A study was conducted to investigate the X-chromosome's role in Alzheimer's Disease (AD), which had been overlooked in previous genome-wide association studies.
  • The research included 115,841 AD cases and 613,671 controls, considering different X-chromosome inactivation (XCI) states in females.
  • While no strong genetic risk factors for AD were found on the X-chromosome, seven significant loci were identified, suggesting areas for future research.
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Aim: Due to aging populations the incidence of aortic valve stenosis (AVS) is increasing steeply. Since no medical therapy is available but only surgical interventions, it is highly warranted to identify modifiable risk factors for early prevention. The aim of the study was to investigate the associations of cardiovascular risk factors with AVS and to create 10-year absolute risk scores for use in primary prevention.

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Aim: Platforms on social media are increasingly used for public health research. While social media provides an exceptional opportunity to explore communication about public health topics, this practice is not without ethical dilemmas. Our aim was to identify and unfold some of these dilemmas and to suggest possible solutions and ways forward for future research.

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Background And Aims: Anti-inflammatory trials have shown considerable benefits for cardiovascular disease. High neutrophil counts, an easily accessible inflammation biomarker, are associated with atherosclerosis in experimental studies. This study aimed to investigate the associations between neutrophil counts and risk of nine cardiovascular endpoints using observational and genetic approaches.

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  • Scientists studied over 176,000 people to see how certain genes might protect against Parkinson's disease (PD) and Alzheimer's disease (AD).
  • They found that specific types of a gene called HLA could help reduce the risk of these diseases and lower harmful proteins in the brain.
  • This suggests that our immune system might help protect us from PD and AD, which could lead to new treatments in the future.
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  • An estimated 40% of dementia cases might be preventable by altering 12 specific risk factors throughout a person's life, although there's insufficient evidence for many of them.
  • The study aims to identify causal relationships between modifiable risk factors for Alzheimer’s disease (AD) to encourage new treatment options and better prevention strategies.
  • Researchers analyzed data from over 39,000 AD patients and 401,000 controls, finding that higher genetically determined levels of HDL cholesterol and systolic blood pressure were linked to an increased risk of developing AD.
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The internal migration literature has identified various factors that deter migration and encourage staying, but has been less concerned with people's own reports about what makes it difficult for them to migrate or makes them want to stay. We explore factors that make it difficult to change the place of residence-from here on denoted as constraints-reported in the Spanish survey on Attitudes and Expectations of Spatial Mobility in the Labour Force (N = 3892). These constraints were uniquely asked from all respondents through an open-ended question, regardless of their migration intentions.

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Background: Dysregulation of calcium ion homeostasis in neurons is well documented in Alzheimer disease (AD), and high plasma calcium concentrations have been associated with cognitive decline in the elderly; however, a potential causal nature for this association has not been elucidated.

Methods: Plasma calcium ion concentrations of 97 968 individuals from the Copenhagen General Population Study (CGPS) were included and multifactorial Cox regressions using splines or quartiles was performed to investigate the observational association. A plasma calcium ion genome-wide association study (GWAS) was performed in 2 independent subgroups of the CGPS.

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Cylindrospermopsin (CYN) is a cyanobacterial toxin that occurs in aquatic environments worldwide. It is known for its delayed effects in animals and humans such as inhibition of protein synthesis or genotoxicity. The molecular targets and the cell physiological mechanisms of CYN, however, are not well studied.

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Importance: Emerging evidence implicates a role for neuroinflammation in Alzheimer disease (AD) pathogenesis, predominantly involving the innate immune system. Blood leukocyte counts are easily accessible markers of immune function; however, their association with the risk of AD is unknown.

Objective: To investigate the observational and genetic associations between types of blood leukocytes and risk of AD.

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Aims: Recent estimates suggest that 40% of dementia cases could be avoided by treating recognised cardiovascular risk factors such as hypertension, diabetes, smoking and physical inactivity. Whether diet is associated with dementia remains largely unknown. We tested if low adherence to established dietary guidelines is associated with elevated lipids and lipoproteins and with increased risk of Alzheimer's disease and non-Alzheimer's dementia – a dementia subtype with a high frequency of cardiovascular risk factors.

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Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated (P < 0.

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Background And Aims: Up to 40% of all dementia cases may be preventable, primarily by treating or acting on well-established cardiovascular risk factors such as diabetes, hypertension, smoking, and physical inactivity. Whether physical inactivity is associated with risk of non-Alzheimer's dementia - a disease influenced by cardiovascular risk factors - and whether a given association differs for physical activity in leisure time and at work remains unknown.

Methods: We conducted a prospective cohort study including 117,616 individuals from the Copenhagen General Population Study and the Copenhagen City Heart Study with up to 43 years of follow-up.

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Background: Polygenic hazard scores (PHS) estimate age-dependent genetic risk of late-onset Alzheimer's disease (AD), but there is limited information about the performance of PHS on real-world data where the population of interest differs from the model development population and part of the model genotypes are missing or need to be imputed.

Objective: The aim of this study was to estimate age-dependent risk of late-onset AD using polygenic predictors in Nordic populations.

Methods: We used Desikan PHS model, based on Cox proportional hazards assumption, to obtain age-dependent hazard scores for AD from individual genotypes in the Norwegian DemGene cohort (n = 2,772).

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Background: An unhealthy diet is a major risk factor for cardiovascular disease attributing to the burden of non-communicable diseases. Current dietary guidelines are not sufficiently implemented and effective strategies to encourage people to change and maintain healthy diets are lacking. We aimed to evaluate the impact of incorporating dietary assessment into ten-year absolute risk charts for atherosclerotic cardiovascular disease (ASCVD).

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Article Synopsis
  • The APOE ε2 and ε4 alleles are well-known genetic variants linked to Alzheimer’s Disease (AD), but the specific roles of apoE protein and rare genetic variants in AD risk are not fully understood.
  • The study aims to find connections between rare missense variants in the APOE gene and the risk of developing AD.
  • It involved analyzing a large sample of participants across multiple cohorts, including a significant number with and without AD, to assess the relationship between these variants and AD risk through established statistical methods.
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Background: Transforming Growth Factor-β (TGF-β) is a genetic modifier in patients with cystic fibrosis (CF). Several single nucleotide polymorphisms (SNPs) of TGF-β are associated with neutrophilic inflammation, lung fibrosis and loss of pulmonary function.

Aim: The aim of this study was to assess the relationship between genetic TGF-β polymorphisms and pulmonary disease progression in CF patients.

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Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis.

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Introduction: Increased plasma levels of C-reactive protein (CRP) in midlife are associated with increased risk of Alzheimer's disease (AD), whereas in older age the opposite association is observed. Whether genetically determined CRP is associated with AD remains unclear.

Methods: A total of 111,242 White individuals from the Copenhagen General Population Study and the Copenhagen City Heart Study were included.

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Through seven decades the inverse association between HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease (ASCVD) has been observed in case-control and prospective cohort studies. This robust inverse association fuelled the enthusiasm towards development of HDL cholesterol increasing drugs, exemplified by the cholesteryl ester transfer protein (CETP) inhibitor trials and the extended-release niacin HPS2-THRIVE trial. These HDL cholesterol increasing trials were launched without conclusive evidence from human genetics, and despite discrepant species dependent evidence from animal studies.

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Background: Coffee is a widely consumed beverage. Surgeons often drink coffee before performing surgery. Caffeine intake leads to tremor which might have a negative effect on surgeons' fine motor skills.

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