In a multi-stage analysis of 52,436 individuals aged 17-90 across diverse cohorts and biobanks, we train, test, and evaluate a polygenic risk score (PRS) for hypertension risk and progression. The PRS is trained using genome-wide association studies (GWAS) for systolic, diastolic blood pressure, and hypertension, respectively. For each trait, PRS is selected by optimizing the coefficient of variation (CV) across estimated effect sizes from multiple potential PRS using the same GWAS, after which the 3 trait-specific PRSs are combined via an unweighted sum called "PRSsum", forming the HTN-PRS. The HTN-PRS is associated with both prevalent and incident hypertension at 4-6 years of follow up. This association is further confirmed in age-stratified analysis. In an independent biobank of 40,201 individuals, the HTN-PRS is confirmed to be predictive of increased risk for coronary artery disease, ischemic stroke, type 2 diabetes, and chronic kidney disease.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9213527 | PMC |
http://dx.doi.org/10.1038/s41467-022-31080-2 | DOI Listing |
Mol Psychiatry
December 2024
From the Clinical & Translational Neuroscience Branch, Intramural Research Program, National Institute of Mental Health, NIH, DHHS, Bethesda, MD, 20892, USA.
Dysfunction of dopamine systems has long been considered a hallmark of schizophrenia, and nearly all current first-line medication treatments block dopamine D receptors. However, approximately a quarter of patients will not adequately respond to these agents and are considered treatment-resistant. Whereas abnormally high striatal presynaptic dopamine synthesis capacity has been observed in people with schizophrenia, studies of treatment-resistant patients have not shown this pattern and have even found the opposite - i.
View Article and Find Full Text PDFEBioMedicine
December 2024
Sorbonne Université, AP-HP Sorbonne Université, Department of Medical Genetics, Paris, France; Sorbonne Université, Paris, France; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France. Electronic address:
Database (Oxford)
December 2024
The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.
Originally developed to meet the challenges of genomic data deluge, GeniePool emerged as a pioneering platform, enabling efficient storage, accessibility, and analysis of vast genomic datasets, enabled due to its data lake architecture. Building on this foundation, GeniePool 2.0 advances genomic analysis through the integration of cutting-edge variant databases, such as CHM13-T2T, AlphaMissense, and gnomAD V4, coupled with the capability for variant co-occurrence queries.
View Article and Find Full Text PDFBMC Genomics
December 2024
Department of Entomology, University of Maryland, College Park, MD, 20742, USA.
Strong and shifting selective pressures of the Anthropocene are rapidly shaping phenomes and genomes of organisms worldwide. Crops expressing pesticidal proteins from Bacillus thuringiensis (Bt) represent one major selective force on insect genomes. Here we characterize a rapid response to selection by Bt crops in a major crop pest, Helicoverpa zea.
View Article and Find Full Text PDFEnviron Res
December 2024
Perelman School of Medicine, University of Pennsylvania, 3451 Walnut St, Philadelphia, PA 19104, USA; The Center of Applied Genomics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, 19104, Philadelphia, PA, USA; Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, 19104, Philadelphia, PA, USA.
Rationale: Ambient air pollution (AAP) is linked to asthma outcomes, but predicting individual risk remains challenging. Understanding genetic contributors to AAP sensitivity may help overcome this gap.
Objectives: To determine if single nucleotide polymorphisms (SNPs) are associated with AAP sensitivity in children with asthma.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!