Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes
The researchers assessed the relationship between copy-number variants (CNVs) and cognitive ability using data from six cohorts, including the CARTaGENE cohort. They performed a genome-wide association study (GWAS) with 258,292 individuals, identifying a duplication at 2q12.3 associated with higher cognitive performance. A functional-burden analysis was developed to examine the association between cognition and CNVs disrupting 6,502 gene sets defined across various biological tissues, cell types, and ontologies. Among these, 864 gene sets were linked to cognition, with the effect sizes of deletions and duplications negatively correlated. Deletions affected subcortical regions and postsynaptic functions, while duplications impacted the cerebral cortex and presynaptic functions.
Exposure to air pollutants and subclinical carotid atherosclerosis measured by magnetic resonance imaging: A cross-sectional analysis
The researchers examined how long-term exposure to air pollution affects early signs of heart disease. They used data to explore whether low levels of air pollutants are linked to the thickening of artery walls. The study included 6,645 adults from five Canadian provinces and estimated their exposure to nitrogen dioxide (NO₂), ozone (O₃), and fine particulate matter (PM2.5) over several years. Using MRI scans to measure carotid artery wall thickness, the researchers found mixed results. Higher levels of ozone were linked to thicker artery walls, suggesting a potential negative effect, while higher nitrogen dioxide levels were associated with thinner artery walls, a finding that requires further investigation.
Subclinical primary aldosteronism and cardiovascular health: a population-based cohort study
This study explores the impact of subclinical primary aldosteronism, a less recognized form of hypertension characterized by renin-independent aldosterone production, on cardiovascular health. With data from 1284 CARTaGENE participants, researchers found that a higher aldosterone-to-renin ratio, indicative of this condition, was associated with increased arterial stiffness, adverse cardiac remodeling, and higher odds of developing hypertension, independent of traditional blood pressure measures.
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
The Global Biobank Meta-analysis Initiative is a collaborative network of 23 biobanks, representing more than 2.2M consented participants with genetic data linked to electronic health records. This collaborative effort will improve genome-wide association studies’ power for diseases, benefit understudied diseases, and improve risk prediction.
Gain-of-function missense variant in SLC12A2, encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia
This study used encoding genetics to determine the relationship of schizophrenia
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy
These data describe a novel KCC2 variant significantly associated with a human disease and suggest genetically encoded impairment of KCC2 functional regulation may be a risk factor for the development of human IGE.