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.
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.
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.
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.
Common variants in the CD36 gene are associated with dietary fat intake, high-fat food consumption and serum triglycerides in a cohort of Quebec adults
This study found that CD36 variants are associated with habitual fat consumption, which may play a role in subsequent associations with chronic-disease biomarkers. Associations differ by BMI status and dietary fat type.
Predictors of long-term use of prescription opioids in the community-dwelling population of adults without a cancer diagnosis: a retrospective cohort study
This study aimed to identify risk factors for and predictors of long-term use of prescription opioids in the community-dwelling population of adults without a diagnosis of cancer, to inform practice change at the point of care. It was found that limiting the initial supply to no more than 7 days and limiting doses to 90 MME/day or less are actions that could be undertaken at the point of care to prevent long-term use.
Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer
This study investigated if MRE11A is a true predisposition gene for hereditary breast and ovarian cancer. Investigations suggested that the identified variant is not associated with an increased risk of developing breast or ovarian cancer, and suggests a lack of clinical utility of MRE11A testing in HBOC, at least in the White/Caucasian populations.
Associations between cognitive function, metabolic factors and depression: A prospective study in Quebec, Canada
The study used baseline and follow-up CARTaGENE data to assess the potential interactions between low cognitive function, metabolic risk factors and history of depression as risk factors for future depressive episodes. Participants with a comorbidity of at least one metabolic factor, history of depression and low cognitive function were found to have the highest risk of experiencing a depressive episode in middle age.
Agreement in the CARTaGENE cohort between self-reported medication use and claim data
The research team investigated the agreement of self-reported medication use in CARTaGENE baseline data with provincial health insurance records. Overall, there was a reasonable agreement between the two data sources, but important variations were found for the different drug classes.
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.