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.
Predictors of CRC Stage at Diagnosis among Male and Female Adults Participating in a Prospective Cohort Study: Findings from Alberta’s Tomorrow Project
This study aimed to uncover factors associated with colorectal cancer (CRC) at diagnosis in 267 Alberta Tomorrow Project participants. Researchers found that social support, having children, and caffeine intake were strong CRC stage predictors at diagnosis for males. In contrast, CRC family history, pregnancy, hysterectomy, menopausal hormone therapy, Pap test lifetime number, and household physical activity were strong CRC predictors at diagnosis for females.
Estimated prevalence of Niemann–Pick type C disease in Quebec
Researchers sought to estimate the prevalence of Niemann-Pick type C disease – an autosomal recessive disease that often results in psychiatric problems in adults – in Québec and determine whether it is underdiagnosed in this province. With CARTaGENE RNA-sequencing data from 911 participants and exome sequencing from 198 participants, researchers estimated the prevalence as 0.61 in 100,000 births.
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.
The impact of reporting magnetic resonance imaging incidental findings in the Canadian alliance for healthy hearts and minds cohort
This study aimed to describe the management policy for incidental findings (IFs) for the Canadian Alliance for Healthy Hearts and Minds (CAHHM) cohort and understand IF disclosure effects for participants. IF management is challenging, though results are promising for the CAHHM’s policies since 97% of participants with an IF reported no change in their quality of life.
Chronic Disease Surveillance in Alberta’s Tomorrow Project using Administrative Health Data
This study linked data from 52,770 Alberta’s Tomorrow Project participants with Alberta Health data to describe the prevalence and incidence of chronic diseases. Researchers found an increase in chronic diseases among the cohort, especially for cardiovascular diseases and multimorbidity.
Effect of Cognitive Reserve on the Association of Vascular Brain Injury with Cognition: Analysis of the PURE and CAHHM Studies
This study sought to determine whether cognitive reserve lessens the correlation between brain injury and cognition. The researchers analyzed data from two population-based studies, including the Canadian Alliance for Healthy Hearts and Healthy Minds (CAHHM), comprising CanPath national and regional data. They found that brain injury and cognitive reserve are related to cognition, but higher cognitive reserve does not mitigate the harmful effects of brain injury.
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
To investigate the genetics of gene expression, the team performed cis- and trans-expression quantitative trait locus (eQTL) analyses using blood-derived expression from 31,684 individuals through the eQTLGen Consortium.
Psychosocial factors and cancer incidence (PSY-CA): Protocol for individual participant data meta-analyses
This study aims (1) to test whether psychosocial factors are associated with the incidence of any cancer; (2) to test the interaction between psychosocial factors and factors related to cancer risk with regard to the incidence of cancer; and (3) to test the mediating role of health behaviors in the relationship between psychosocial factors and the incidence of cancer.
Two approaches for estimating propensity score weights for examining neighbourhood built environment and walking changes
Christie et al. created a walkability index using pre- and post-relocation neighbourhood built environment and walking data from Alberta’s Tomorrow Project participants to examine how walking duration changed with residential relocation. While changes in walkability were not associated with changes in walking, the researchers suggest further research regarding neighbourhood environment changes and other physical activity behaviours.