Comprehensive expression quantitative trait loci studies have been instrumental for understanding tissue-specific gene regulation and pinpointing functional genes for disease-associated loci in a tissue-specific manner. Compared to gene expressions, proteins more directly affect various biological processes, often dysregulated in disease, and are important drug targets. We previously performed and identified tissue-specific protein quantitative trait loci in brain, cerebrospinal fluid, and plasma. We now enhance this work by analyzing more proteins (1,300 versus 1,079) and an almost twofold increase in high quality imputed genetic variants (8.4 million versus 4.4 million) by using TOPMed reference panel. We identified 38 genomic regions associated with 43 proteins in brain, 150 regions associated with 247 proteins in cerebrospinal fluid, and 95 regions associated with 145 proteins in plasma. Compared to our previous study, this study newly identified 12 loci in brain, 30 loci in cerebrospinal fluid, and 22 loci in plasma. Our improved genomic atlas uncovers the genetic control of protein regulation across multiple tissues. These resources are accessible through the Online Neurodegenerative Trait Integrative Multi-Omics Explorer for use by the scientific community.
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http://dx.doi.org/10.1038/s41597-024-03140-3 | DOI Listing |
Infect Drug Resist
December 2024
Centre of Laboratory Medicine, Zhejiang Provincial People's Hospital, People's Hospital of Hangzhou Medical College, Hangzhou, Zhejiang, People's Republic of China.
Objective: To compare the performance of a new chemiluminescence method with that of the traditional colloidal gold method for cryptococcal antigen (CrAg) detection.
Methods: Cryptococcosis is a global invasive mycosis associated with significant morbidity and mortality. Cryptococcal antigen (CrAg) testing from serum and cerebrospinal fluid (CSF) has been regarded as the gold standard for early diagnosis.
Front Neurol
December 2024
Department of Neurology, Tianjin Huanhu Hospital, Tianjin, China.
Background: Emamectin·chlorfenapyr is a compound comprising chlorfenapyr and emamectin benzoate that is widely used in agriculture. Chlorfenapyr toxicity has been verified in animals; however, its true mechanism and progression in humans remain to be elucidated. Cases of emamectin·chlorfenapyr poisoning are seldom.
View Article and Find Full Text PDFThis study aims to evaluate cerebrospinal fluid (CSF) flow dynamics within ventricles, and the subarachnoid space (SAS) using the velocity selective spin labeling (VSSL) MRI method with Fourier-transform-based velocity selective inversion preparation. The study included healthy volunteers who underwent MRI scanning with specific VSSL parameters optimized for CSF flow quantification. The VSSL sequence was calibrated against phase-contrast MRI (PC-MRI) to ensure accurate flow velocity measurements.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Department of Neurology, Division of Cognitive Neurology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.
Introduction: Alzheimer's disease (AD) is characterized by the presence of two proteinopathies, amyloid and tau, which have a cascading effect on the functional and structural organization of the brain.
Methods: In this study, we used a supervised machine learning technique to build a model of functional connections that predicts cerebrospinal fluid (CSF) p-tau/Aβ (the PATH-fc model). Resting-state functional magnetic resonance imaging (fMRI) data from 289 older adults in the Alzheimer's Disease Neuroimaging Initiative (ADNI) were utilized for this model.
Alzheimers Dement
December 2024
Department of Radiology, Brain Health Imaging Institute, Weill Cornell Medicine, New York, New York, USA.
Our review summarizes the diagnostic accuracy of plasma and cerebrospinal fluid (CSF) phosphorylated tau 217 (p-tau217) in detecting amyloid and tau pathology on positron emission tomography (PET). We systematically reviewed studies that reported the diagnostic accuracy of plasma and CSF p-tau217, searching MEDLINE/PubMed, Scopus, and Web of Science through August 2024. The accuracy of p-tau217 in predicting amyloid and tau pathology on PET was evaluated in 30 studies.
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