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Body composition in prepubertal children with idiopathic premature adrenarche: implications for cardiometabolic health.
Pediatr Res
December 2024
The Institute of Pediatric Endocrinology, Diabetes and Metabolism, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel affiliated to the Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Background: Premature adrenarche (PA) has been reported as a potential precursor of metabolic disease. We aimed to explore the interaction between body composition and cardiometabolic health of prepubertal children with PA.
Methods: This observational study comprised of 87 children with PA (15 boys, 8.
TIPS: a novel pathway-guided joint model for transcriptome-wide association studies.
Brief Bioinform
September 2024
Department of Epidemiology and Biostatistics, University of Maryland, College Park, MD 20742, United States.
In the past two decades, genome-wide association studies (GWAS) have pinpointed numerous SNPs linked to human diseases and traits, yet many of these SNPs are in non-coding regions and hard to interpret. Transcriptome-wide association studies (TWAS) integrate GWAS and expression reference panels to identify the associations at gene level with tissue specificity, potentially improving the interpretability. However, the list of individual genes identified from univariate TWAS contains little unifying biological theme, leaving the underlying mechanisms largely elusive.
View Article and Find Full Text PDFSex-specific Genetic Determinants of Right Ventricular Structure and Function.
Am J Respir Crit Care Med
October 2024
Imperial College London, London, United Kingdom of Great Britain and Northern Ireland.
Rationale: While sex differences in right heart phenotypes have been observed, the molecular drivers remain unknown.
Objectives: To provide biological insights into sex differences in the structure and function of the right ventricle (RV) using common genetic variation.
Methods: RV phenotypes were obtained from cardiac magnetic resonance imaging in 18,156 women and 16,171 men from the UK Biobank.
Genetic Variance in Heparan Sulfation Is Associated With Salt Sensitivity.
Hypertension
October 2024
Department of Internal Medicine, Section of Nephrology (J.J.O., M.A.R., G.N.S., R.H.G.O.E., L.V.).
Background: High heritability of salt sensitivity suggests an essential role for genetics in the relationship between sodium intake and blood pressure (BP). The role of glycosaminoglycan genes, which are crucial for salinity tolerance, remains to be elucidated.
Methods: Interactions between 54 126 variants in 130 glycosaminoglycan genes and daily sodium excretion on BP were explored in 20 420 EPIC-Norfolk (European Prospective Investigation Into Cancer in Norfolk) subjects.
Association Between Cardiac Size, Systolic Function, and Complications in Vascular Ehlers-Danlos Syndrome.
Can Assoc Radiol J
February 2025
Department of Medical Imaging, University of Toronto, Toronto, ON, Canada.
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and aggressive heritable aortic disease caused by pathogenic variants in COL3A1 gene, characterized by spontaneous arterial dissection and organ rupture. The purpose of this study is to evaluate ventricular size and function and to explore their associations with complications in vEDS. Adults with genetically confirmed vEDS who underwent clinical cardiac MRI were retrospectively compared with controls matched for age and sex.
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