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.
Population-Based Recalibration of the Framingham Risk Score and Pooled Cohort Equations
The Framingham Risk Score (FRS) and Pooled Cohort Equations (PCEs) overestimate risk in many contemporary cohorts. This study sought to determine if the recalibration of these scores using contemporary population-level data improves risk stratification for statin therapy.
Cohort Profile: The Ontario Health Study (OHS)
OHS’s cohort profile outlines its research platform’s history and value for the broader scientific community. OHS follows 225,000 over their lifetime, actively and passively, making de-identified genomic, environmental, lifestyle, and electronic health data available to cancer and chronic disease researchers.
Arsenic Speciation and Metallomics Profiling of Human Toenails as a Biomarker to Assess Prostate Cancer Cases: Atlantic PATH Cohort Study
This study aimed to characterize arsenic species and metallome profiles in toenails and urine samples, compare these profiles between prostate cancer cases and controls, and evaluate the utility of toenail and urine biomarkers. Toenails were found to be viable biomarkers for altered arsenic speciation in prostate cancer cases.
Developing a Socioeconomic Status Index for Chronic Disease Prevention Research in Canada
Researchers developed a socioeconomic status (SES) index and assessed its associations with smoking amongst 17,371 Alberta’s Tomorrow Project participants. They found that their index was negatively related to smoking intensity.
Lifestyle factors and lung cancer risk among never smokers in the Canadian Partnership for Tomorrow’s Health (CanPath)
Data from 950 CanPath participants were analyzed to understand why 15-25% of lung cancers occur in never smokers. Researchers found a link between lung cancer risk, sleep, and fruit and vegetable intake amongst never smokers.
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin
This study is a meta-analysis of genome-wide association studies to understand the mechanisms that regulate urinary excretion of uromodulin. Researchers identified two novel significant loci, providing insight into uromodulin’s biology, keratins’ role in the kidney, and the UMOD-PDILT locus’s influence on kidney function.
Evaluation of Adiposity and Cognitive Function in Adults
Researchers sought to undercover the association between adipose tissue (amount and distribution) and cognitive scores. Using data from 9,189 participants, they found that higher visceral adipose tissue and body fat percentage correlated with increased vascular brain injuries and cardiovascular risk factors, as well as lower cognitive scores.
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene
Researchers sought to describe how new genes might be associated with ovarian cancer risk amongst 5,249 CARTaGENE participants. They found that a FANCI gene mutation is more common in familial ovarian cancer patients.
A large Canadian cohort provides insights into the genetic architecture of human hair colour
Researchers performed genome-wide association studies and meta-analyses to garner insight on regulatory mechanisms of hair colour variation and pigmentation biology. 12,996 genotyped CanPath participants were included in this study, along with their self-reported natural hair colour. The researchers fine-mapped significant loci throughout the genome, identifying multiple novel causal variants for hair colour.