Publications

Quantifying the Predictive Accuracy of a Polygenic Risk Score for Predicting Incident Cancer Cases: Application to the CARTaGENE Cohort

Authors: Julianne Duhaze, Rodolpje Jantzen, Yves Payette, Thibault De Malliard, Catherine Labbe, Nolwenn Noisel, Philippe Broet

This study evaluated the 5-year predictivity of an 18-single nucleotide polymorphism PRS for incident breast cancer cases in the CARTaGENE cohort using pseudo R^2 indices. It concluded that the proposed pseudo-R^2 is easy to implement and well suited to evaluate PRS for predicting incident events in cohort studies.

Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls

Authors: Supriya Behl, Nancy Hamel, Manon de Laduarantaye, Stephanie Lepage, Rejean LaPointe, Anne-Marie Mes-Massson, William Foulkes

The purpose of this study was to evaluate the efficacy of genetic testing for these variants of the BRCA gene in Montreal French Canadians. A total of 555 breast cancer cases unselected for family history or age of diagnosis were genotyped, along with 1940 controls without a personal or family history of cancer. Almost 10% of the early onset cases of BC were heterozygous for founder BRCA1 or BRCA2. 7 of the 20 variants of the breast cancer gene tested for were found in this study.

The Relationship of Sleep Duration with Ethnicity and Chronic Disease in a Canadian General Population Cohort

Authors: Mandeep Singh, Kelly Hall, Amy Reynolds, Lyle Palmer, Sutapa Mukherjee

This study used questionnaire data from the Ontario Health Study to determine how ethnicity-specific differences in sleep duration affect health outcomes. It was found that both sleep duration and ethnicity were independent significant predictors for various morbidities such as diabetes, stroke, and depression.

Association of Glomerular Hyperfiltration and Cardiovascular Risk in Middle-Aged Healthy Individuals

Authors: Marie-Eve Dupuis, Annie-Claire Nadeau-Fredette, Francois Madore, Mohsen Agarazii, Remi Goupil

In this cohort study of 9,515 patients with health information accessed through the CARTaGENE cohort, glomerular hyperfiltration was shown to be associated with increased risk of cardiovascular events in middle-aged healthy individuals. This suggests that glomerular hyperfiltration could be a useful cardiovascular biomarker in this population.

Physical Activity is Associated With Reduced Prevalence of Self-Reported Obstructive Sleep Apnea in a Large, General Population Cohort Study

Authors: Kelly Hall, Mandeep Singh, Sutapa Mukherjee, Lyle Palmer

The researchers used Ontario Health Study data to determine if physical activity would reduce the prevalence of OSA. Upon determining the prevalence of OSA, the reseachers were able to do a cross sectional analysis to determine that increased physical activity had a statistical significance of (P ≤ 0.045). Moderate activity did not have much of an impact on the prevalence of OSA. These results showed that increased physical activity would be a preventative measure for OSA.

Reduced Cognitive Assessment Scores Among Individuals With Magnetic Resonance Imaging–Detected Vascular Brain Injury

Authors: Sonia S. Anand, Matthias G. Friedrich, Dipika Desai, Karleen M. Schulze, Philip Awadalla, David Busseuil, Trevor J.B. Dummer, Sébastien Jacquemont, Alexander Dick, David Kelton, Anish Kirpalani, Scott A. Lear, Jonathan Leipsic, Michael D. Noseworthy, Louise Parker, Grace Parraga, Paul Poirier, Paula Robson, Jean-Claude Tardif, Koon Teo, Jennifer Vena, Salim Yusuf, Alan R. Moody, Sandra E. Black, Eric E. Smith,

This study investigated if scores on a cognitive screen were lower in individuals with higher cardiovascular risk, and those with covert vascular brain injury. Among a middle-aged community-dwelling population, scores on a cognitive screen were lower in individuals with higher cardiovascular risk factors or MRI vascular brain injury. Much of the population attributable risk of low cognitive scores can be attributed to lower educational attainment, higher cardiovascular risk factors, and MRI vascular brain injury.

Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes

Authors: Aminah Tasnim Ali, Youssef Idaghdour, Alan Hodgkinson

The study identified links between mitochondrial RNA modification levels and genetic variants in the nuclear genome, including a missense mutation in LONP1, and found that genetic variants within MRPP3 and TRMT61B are associated with RNA modification levels across a large number of tissues.

Is there an agreement between self-reported medical diagnosis in the CARTaGENE cohort and the Québec administrative health databases?

Authors: Yves Payette, Cristiano Soares de Moura, Catherine Boileau, Sasha Bernatsky, Nolwenn Noisel

This study sought to determine if administrative health data and self-report questionnaires would yield the same information as population health studies. Further the research team hoped to identify statisical predictors. It was determined that there was agreement between AHD and self reported questionnaire and that there were variations depending on the disease.

The association between physical activity and self-rated health in Atlantic Canadians

The population of Atlantic Canada is aging rapidly and has among the highest rates of chronic disease in the country. This cross-sectional study drew data from Atlantic PATH to investigate the association between physical activity and self-rated health among adults in this population. The results suggest that physical activity may help to improve perceived health status of individuals with one or more chronic conditions. The findings support literature suggesting that physical activity can be beneficial for adults as they age with chronic disease.

Impact of updated recommendations on acetylsalicylic acid use for primary prevention of cardiovascular disease in Canada: a population-based survey

Authors: Myriam Khalili, Fanny Lepeytre, Jason Guertin, Remi Goupil, Stephan Troyanov, Josee Bouchard, Francois Madore

This study aimed to evaluate the prevalence and factors associated with ASA use, and the potential impact of implementing the most recent (2016) US Preventive Services Task Force recommendations for primary CVD prevention in a Canadian setting.