Multivariate extension of penalized regression on summary statistics to construct polygenic risk scores for correlated traits
The authors developed a summary-statistics-based multivariate penalized regression approach to improve the prediction of complex human traits and disorders, such as schizophrenia and bipolar disorder, by considering genetic correlations between these conditions. The study utilized genotypes from 29,330 subjects from the CARTaGENE cohort to determine the predictive performance of polygenic risk scores (PRS) for genetically correlated traits in simulation for several PRS construction methods.
Relationship between lifestyle habits and cardiovascular risk factors in familial hypercholesterolemia
This study’s objective was to assess the relationship between lifestyle and cardiovascular risk factors in adults with familial hypercholesterolemia (FH), the most prevalent genetic disorder causing premature cardiovascular diseases (CVD) and deaths. Using data from 122 CARTaGENE participants, researchers suggest that a healthy lifestyle (e.g., not smoking, being physically active, eating a healthy diet, having a light to moderate alcohol consumption, sleeping 7-8 hours per day) is favorably associated with CVD risk factors in adults with FH.
Provincial variation in colorectal cancer screening adherence in Canada; evidence from the Canadian Partnership for Tomorrow’s Health
The researchers sought to assess regional variation in screening uptake, identify factors to non-adherence to screening, and estimate adherence to screening in those with differing risk profiles. Using national CanPath data, they found adherence suboptimal amongst Canadians and noticed variation by region.
From genetic association to forensic prediction: Computational methods and tools for identifying phenotypically informative single nucleotide polymorphisms
The researchers assessed how pigmentation genetics can enhance forensic DNA phenotyping (FDP) for predicting externally visible characteristics (EVCs) such as hair, eye, and skin color. Using a genome-wide association study (GWAS) approach, they analyzed single nucleotide polymorphisms (SNPs) associated with pigmentation traits in data from CARTaGENE, Alberta’s Tomorrow Project, Ontario Health Study, BC Generations Project, and Atlantic PATH. Specifically, they examined genetic variants related to eye color in individuals with a blue eye color background (rs12913832:GG genotype). The study demonstrated how GWAS data, combined with post-genotyping analyses and functional annotation, can provide insights into pigmentation-associated loci. The findings contribute to refining FDP accuracy and may serve as a reference for future genomic investigations of EVCs in forensic settings.
150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility
This study includes data from over 724,000 individuals, including data from 7,696 CARTaGENE participants. Researchers identified 150 genetic variants associated with diverticular disease (DivD) of the intestine. Their findings suggest that DivD may be linked to factors related to colon structure, gut motility, gastrointestinal mucus, and ionic balance. Notably, one of the identified genes is a target for a drug used to treat irritable bowel syndrome (IBS), highlighting a potential connection between these two gastrointestinal conditions.
Time spent in the sun and the risk of developing non-Hodgkin lymphoma: a Canadian cohort study
This study’s objective was to explore the relationship of sun behaviour patterns with non-Hodgkin lymphoma (NHL) risk. Using data from 79,803 Alberta’s Tomorrow Project, CARTaGENE, and Ontario Health Study participants, the researchers found a protective effect of moderate time spent in the sun on NHL risk
On the genes, genealogies, and geographies of Quebec
Researchers used historical records and genetic data from 20,451 CARTaGENE participants to create a detailed model of French Canadian ancestry. They found that the population’s structure has changed, particularly influenced by geographic factors and river networks. Their simulated genetic dataset is available for further research.
Prevalence of weak D phenotypes in the general population of Québec, Canada: A focus on weak D type 42
This study aimed to estimate the prevalence of weak D type 42, a particular blood group variant, and other common weak D phenotypes among 1000 CARTaGENE participants. Researchers estimated that about 0.08% of the Quebec population has this variant.
Mental health service use and associated predisposing, enabling and need factors in community living adults and older adults across Canada
The authors utilized data from the CanPath COVID-19 health survey (May to December 2020) to conduct multivariate logistic regression analysis to determine the association between mental health service use (MHSU) and predisposing, enabling, and need factors — derived from Andersen’s model of healthcare-seeking behaviour — among five regional cohorts. Among the 45,542 adults in the study population, 6.3% of respondents reported MHSU and need factors were consistently associated with MHSU.
Evaluation of the accuracy of the PLCOm2012 6-year lung cancer risk prediction model among smokers in the CARTaGENE population-based cohort
This study aimed to validate a tool to predict lung cancer risk using data from CARTaGENE participants. It showed good accuracy in identifying lung cancer risk but underestimated the number of cases. This tool may require calibration adjustments for the Quebec population.