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.
Recombination affects allele-specific expression of deleterious variants in human populations
This study investigates how changes in the genetic makeup of a population, influenced by random genetic drift and selective forces, impact the variation in observable traits over time. The researchers found that specific factors like recombination rates and population size affect patterns of allele-specific gene expression, with regions of high recombination showing a higher efficiency in using this mechanism to suppress harmful genetic variations.
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.
Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control
This study assessed whether cardiovascular and renal risk factors combined with the age of onset and duration of diabetes are sufficient predictors of type 2 diabetes. Of the 21,702 participants, 488 participants with type 2 diabetes originated from CanPath. The researchers developed a prediction model to help identify high-risk individuals who could benefit from therapies and treatments.
Normal sex and age-specific parameters in a multi-ethnic population: a cardiovascular magnetic resonance study of the Canadian Alliance for Healthy Hearts and Minds cohort
Researchers sought to create a robust, reference value set for cardiovascular magnetic resonance (CMR) parameters, and understand their relationship with age and sex in people without cardiovascular disease (CVD) history or risk factors. They were able to uncover a significant influence of sex and age on these parameters for use in clinical evaluations of CVD.
Diabetes, Brain Infarcts, Cognition and Small Vessels in the Canadian Alliance for Healthy Hearts and Minds Study
The CAHHM study collected brain and carotid magnetic resonance imaging (MRI) and two cognitive tests (DSST and MoCA) in a cross-sectional sample of 7,733 men and women. It was concluded that small vessel disease characterizes much of the relationship between diabetes and vascular brain injury. However, additional factors are required to disentangle the relationship between diabetes and cognitive impairment.
Long-term exposure to a mixture of industrial SO 2, NO 2, and PM 2.5 and anti-citrullinated protein antibody positivity
The research team looked at exposures to SO2, NO2, and fine particles matter on anti-citrullinated protein antibodies, a characteristic biomarker for rheumatoid arthritis (RA). It was found that there was a positive correlation between ACPA and industrial emissions of PM2.5 and SO2.
Industrial air emissions, and proximity to major industrial emitters, are associated with anti-citrullinated protein antibodies
They assessed the relationships between PM25, SO2, and ACPA which is a marker for RA, they found there was a positive association between ACPA and industrial PM2.5/SO2 emissions. Finally there was a correlation between air pollution from industrial emissions and ACPA suggests a role for these exposures in RA.
A haplotype-based normalization technique for the analysis and detection of allele specific expression
The research team examined allele specific expression which can be an identifier for disease loci. They were able to sequence exomes from CARTaGENE cohort and find a significant association between the proportion of sites undergoing ASE within the genome and smoking.