Occupational Exposures and Lung Cancer Risk – An Analysis of the CARTaGENE Study
This study aimed to understand the relationship between common occupational agents (e.g., ashes, cooking fumes) and lung cancer risk. Researchers found that increased lung cancer risk was linked to many of these agents, but lower lung cancer risk was found among those exposed to carbon monoxide and polycyclic aromatic hydrocarbons from petroleum.
Association of essential tremor with novel risk loci: A genome-wide association study and meta-analysis
This study revealed five genome-wide significant loci associated with essential tremor (ET), one of the most common movement disorders. The researchers’ findings suggest that common genetic variation partly explains ET’s heritability.
Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?
This study aimed to understand if ADA gene variants are related to sleepwalking. Using data from 157 CARTaGENE participants, as well as participants from other cohorts and databases, researchers found no association between the ADA gene and sleepwalking.
Investigation of the impact of commonly used medications on the oral microbiome of individuals living without major chronic conditions
Saliva samples from 1,214 Atlantic PATH participants were analyzed for gene sequencing and microbial community composition differences, particularly between non-, single-, and multi-drug users. Researchers found a minimal influence of the analyzed medications on the salivary microbiome for those with chronic conditions.
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.