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Observational study protocol: the faecal microbiome in the acute stage of new-onset paediatric type 1 diabetes in an Irish cohort
Published 2025-01-01“…We will develop a microbial culture biobank based on culturomic studies of stool samples from the healthy controls that will support future investigation. …”
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122
Water quality and neurodegenerative disease risk in the middle-aged and elderly population
Published 2025-01-01“…We assembled a cohort of 397,265 participants from the UK Biobank to investigate the associations of water hardness with neurodegenerative diseases and brain imaging phenotypes through modeling. …”
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123
Peripheral oxygen saturation levels as a guide to avoid hyperoxia: an observational study
Published 2025-01-01“…Methods In a retrospective observational cohort study of patients included in the Acutelines data- and biobank of the University Medical Center Groningen between September 2020 and March 2023, we collected blood gas samples and triage data of sequentially included patients who received oxygen at the moment they were presented in the emergency department (ED). …”
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124
A Mendelian randomization study: physical activities and chronic kidney disease
Published 2024-12-01“…Genome-wide association studies from the UK Biobank baseline data were used for physical activity phenotypes and included 460,376 participants. …”
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125
Association of Visceral Adipose Tissue With Hypertension: Results From the NHANES 2011–2018 and Mendelian Randomization Analyses
Published 2025-01-01“…Independent genetic variants related to VAT mass were derived from genome‐wide association studies (GWAS) in 325 153 UK Biobank participants. The primary analysis employed the random‐effects inverse‐variance weighted (IVW) method, with MR‐Egger, weighted median, simple mode, and weighted mode as sensitivity analyses. …”
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126
<i>In silico</i> mapping of coronary artery disease genes
Published 2020-01-01“…The analysis was based on the results of the genome-wide association studies (GWAS) available from the open databases MICAD (120,575 people, 85,112 markers) and UK Biobank (337,199 people, 10,894,597 markers). We used the sumFREGAT package implementing a wide range of new methods for gene-based association analysis using summary statistics. …”
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127
A two-sample bidirectional Mendelian randomization analysis between telomere length and hyperthyroidism
Published 2025-01-01“…However, the casual association between telomere length (TL) and hyperthyroidism remains unclear.ObjectiveWe aim to explore the casual relationship between TL and hyperthyroidism.MethodsA two-sample bidirectional Mendelian randomization (MR) analysis employed the inverse variance weighted (IVW) method, supplemented by additional approaches such as Weighted Median (WM), and MR Egger.ResultsThe summary statistics for TL were derived from the UK Biobank, comprising 472,174 individuals, while the data for hyperthyroidism were sourced from the GWAS Catalog and the FinnGen database, encompassing cohorts of 460,499 and 173,938 individuals, respectively. …”
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Bidirectional Mendelian Randomization Analysis to Study the Relationship Between Human Skin Microbiota and Radiation-Induced Skin Toxicity
Published 2025-01-01“…Summary datasets of human skin microbiota were extracted from the GWAS catalog database, and summary datasets of radiation-induced skin toxicity from the FinnGen biobank. Mendelian Randomization (MR) analysis was leveraged to sort out the causal link between skin microbiota and radiation-induced skin toxicity. …”
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130
Clonal hematopoiesis of indeterminate potential and type 2 diabetes mellitus among patients with STEMI: from a prospective cohort study combing bidirectional Mendelian randomizatio...
Published 2025-01-01“…Mendelian randomization studies suggest that the development of T2DM may increase the propensity for CHIP, as indicated by findings from the UK Biobank and FinnGen consortium. T2DM, type 2 diabetes mellitus; CHIP, clonal haematopoiesis of indeterminate potential.…”
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131
Causal Effects of Air Pollution, Noise, and Shift Work on Unstable Angina and Myocardial Infarction: A Mendelian Randomization Study
Published 2024-12-01“…Summary statistics were derived from large genome-wide association studies (GWASs) from the UK Biobank and the FinnGen consortium (Helsinki, Finland), with replication using an independent GWAS data source for myocardial infarction. …”
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132
A multi-trait approach identified 7 novel genes for back pain
Published 2025-02-01“…Using phenotypes and imputed genotypes from the UK Biobank 500k dataset, we generated a multi-trait phenotype by combining 3 BP-related phenotypes: chronic BP, dorsalgia, and intervertebral disk disorders. …”
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133
Genetic insight into dissecting the immunophenotypes and inflammatory profiles in the pathogenesis of Sjogren syndrome
Published 2025-01-01“…We performed a bidirectional Mendelian randomization and mediation study based on randomly allocated instrumental variables to infer causality, followed by external validation with UK Biobank data and Bayesian colocalization. Results We demonstrated that an elevated level of CD27 on IgD + CD24 + B cell, a subset of B cells expressing both IgD and CD24, was associated with a higher risk of SS (OR = 1.119, 95% CI: 1.061–1.179, P < 0.001), while CD3 on CD45RA + CD4 + Treg was a protective factor (OR = 0.917, 95%CI: 0.877–0.959, P < 0.001). …”
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134
Closing the gap in dementia research by community-based cohort studies in the Chinese populationResearch in context
Published 2025-02-01“…We identified critical research gaps and propose future directions, including enhancing sample representativeness, investigating China-specific risk factors, expanding exposure measurements to the whole life-span, collecting objective data, conducting administer-friendly domain-specific cognitive assessments, adopting pathological diagnostic criteria, standardizing biobank construction, verifying multi-modal biomarkers, examining social and genetic-environmental aspects, and monitoring post-COVID cognitive health, to approach high quality of dementia studies that can provide solid evidence to policy making and promote global brain health research.…”
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135
Genetic and Plasma Proteomic Approaches to Identify Therapeutic Targets for Graves’ Disease and Graves’ Ophthalmopathy
Published 2025-02-01“…We aimed to identify the causal proteins and potential targets for Graves’ disease (GD) and Graves’ ophthalmopathy (GO) via systematic genetic analyses.Methods: Genome-wide association studies (GWASs) on the UK Biobank- Pharma Proteomics Project (UKB-PPP) collected 2923 Olink proteins from 54,219 participants. …”
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136
Multi-omic spatial effects on high-resolution AI-derived retinal thickness
Published 2025-02-01“…Retinal thickness measurements are procured from optical coherence tomography (OCT) as part of routine clinical eyecare. We processed the UK Biobank OCT images using a convolutional neural network to produce fine-scale retinal thickness measurements across > 29,000 points in the macula, the part of the retina responsible for human central vision. …”
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137
Miniaturization and characterization of patient derived hepatocellular carcinoma tumor organoid cultures for cancer drug discovery applications
Published 2025-01-01“…The ability to efficiently generate, expand, and biobank PDTOs has the potential to make the clinical diversity of cancer accessible for personalized medicine assay guided therapeutic drug selection and drug discovery. …”
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138
Proteome‐Wide Mendelian Randomization Identifies Therapeutic Targets for Abdominal Aortic Aneurysm
Published 2025-02-01“…Methods and Results Our study used plasma proteomics data from the UK Biobank, comprising 2923 proteins from 54 219 individuals, and from deCODE Genetics, which measured 4907 proteins across 35 559 individuals. …”
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Causal associations between iron levels in subcortical brain regions and psychiatric disorders: a Mendelian randomization study
Published 2025-01-01“…The genetic instrumental variables linked to iron levels and psychiatric disorders were derived from the genome-wide association studies data of the UK Biobank Brain Imaging and Psychiatric Genomics Consortium. …”
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Explainable Self-Supervised Dynamic Neuroimaging Using Time Reversal
Published 2025-01-01“…Methods: We pretrained an LSTM-based model with attention using the TR approach, focusing on learning the direction of time in fMRI data, achieving over 98 % accuracy on HCP and UK Biobank datasets. For downstream schizophrenia classification, TR-pretrained weights were transferred to models evaluated on FBIRN, COBRE, and B-SNIP datasets. …”
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