Publications

Les publications qui suivent sont des exemples de recherches rendues possibles grâce aux données de CanPath et de ses cohortes régionales.

2025

Influence of dietary components on the gut microbiota of middle-aged adults: the gut-Mediterranean connection

Auteurs : Shrushti Shah, Chunlong Mu, Grace Shen-Tu , Nathalie Rohmann, Kristina Schlicht, Matthais Laudes, Jane Shearer

Researchers used data, blood and stool samples from 368 participants from the Alberta’s Tomorrow Project. They aimed to explore the relationships between the Mediterranean diet and gut health. They found that participants who adherence closer to the Mediterranean diet had increased alpha diversity and more beneficial fibre-degrading bacteria.

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2025

PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada

Auteurs : Anne-Laure Chong, Alejandro Mejia-Garcia, Supriya Behl, Zaki El Haffaf, Sébastien Chénier, Bruno Maranda, Valérie Désilets, Sébastien Lévesque, Lysanne Castonguay, Anne-Marie Mes-Masson, Sylvie Giroux, François Rousseau, Nancy Hamel, George Chong, Simon Gravel, William D. Foulkes

Researchers used genotyping data from 22 families with at least one person with Lynch Syndrome who are part of the CARTaGENE cohort. They aimed to explore a genetic variant in families with Lynch Syndrome to confirm the origin, frequency and risk of developing different types of cancer associated with this genetic variant. Results show an increase in colorectal cancer cases for participants with one variant and researchers identified the most frequent cause of mismatch repair deficiency syndromes in French Canadians within Quebec.

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2025

Sociodemographic characteristics of SARS-CoV-2 serosurveillance studies with diverse recruitment strategies, Canada, 2020 to 2023

Auteurs : Matthew J. Knight, Yuan Yu, Jiacheng Chen, Sheila F. O’Brien, David L. Buckeridge, Carmen Charlton & W. Alton Russell

Using data from 25,156 CanPath participants, Matthew J. Knight and colleagues investigated the general population representation of serology investigations conducted in Canada. Racialized groups were frequently underrepresented, they discovered, especially in conventional cohort-based studies such as CanPath. The study demonstrates that no one recruiting strategy is completely representative, underscoring the necessity for several approaches in national health surveillance, even though other strategies were able to capture greater variety among rural and low-income individuals.

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2025

Association between nitrogen dioxide and incident breast cancer in Alberta’s tomorrow project

Auteurs : Mohadeseh Ahmadi, Rachel A Murphy, Maryam Darvishian & Trevor J. B. Dummer

Mohadeseh Ahmadi and collaborators examined 15,536 postmenopausal women from the Alberta’s Tomorrow Project over a period of 12.6 years to determine whether air pollution from nitrogen dioxide raises the risk of breast cancer. Hazard ratios for every 10 ppb rise in NO₂ were from 1.01 to 1.10, indicating no discernible correlation. The results are consistent with data from throughout the world and imply that Alberta’s lower pollution levels could account for the lack of correlation.

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2025

Genetic Similarity Clustering Using the UK Biobank as a Reference Dataset

Auteurs : Ngoc-Quynh Le, Puya Gharahkhani, Stuart MacGregor

When testing their genetic ancestry clustering algorithm using CARTaGENE data, Ngoc-Quynh Le and colleagues demonstrated that it could consistently categorize participants across 19 worldwide ancestry categories. With 81% precision and 97% recall, 519 people were correctly clustered as Middle Eastern in CARTaGENE. This illustrates how ancestry in smaller cohorts, such as CARTaGENE, may be successfully identified by using the UK Biobank as a reference.

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2025

Metformin use and risk of total joint replacement in patients with diabetes: a longitudinal cohort study of Alberta’s Tomorrow Project

Auteurs : Ming Ye, Jennifer E Vena, Grace Shen-Tu, Jeffrey A Johnson, Dean T Eurich

The researchers looked into the possibility that people with diabetes who use metformin, a common first-line treatment for type 2 diabetes, have a lower risk of total joint replacement (TJR). They looked at 3,001 participants with newly diagnosed diabetes using longitudinal data from Alberta’s Tomorrow Project and used time-varying Cox regression models to assess the association between TJR incidence and metformin dose. The findings indicate a potential protective effect of metformin on joint health, with reduced TJR rates seen among metformin users compared to non-users, despite the fact that the results were not statistically significant. This study offers early data that could guide future investigations into the relationship between musculoskeletal results and diabetes care.

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2025

The Association of Sleep Trouble and Physical Inactivity with Breast Cancer Risk in Nova Scotia: Evidence from the Atlantic PATH Cohort

Auteurs : Cindy Feng, Ellen Sweeney

Breast cancer is a major public health concern, and modifiable health behaviors such as sleep quality and physical activity may influence risk. This study examined the associations between self-reported sleep trouble, sleep duration, and physical activity with breast cancer incidence in a prospective longitudinal cohort of 10,305 females from Nova Scotia. Breast cancer cases were identified through record linkage to the Nova Scotia Cancer Registry. Multivariable logistic regression models were used to estimate adjusted odds ratios (AORs) and 95% confidence intervals (CIs), accounting for sociodemographic factors, reproductive history, comorbidities, and other health behaviors. Frequent sleep trouble (“all of the time”) was significantly associated with increased odds of breast cancer (AOR = 2.41, 95% CI = 1.09–5.34, p = 0.03), while no significant associations were observed between sleep duration and breast cancer risk. High physical activity was significantly associated with a lower risk of breast cancer (AOR = 0.58, 95% CI = 0.39–0.86, p < 0.01). These findings suggest that frequent sleep disturbances may be associated with an increased risk of breast cancer, while high physical activity appears to be linked to a lower risk of breast cancer. Further research is needed to explore these relationships and their underlying mechanisms.

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2025

Provincial variation in colorectal cancer screening adherence in Canada; evidence from the Canadian Partnership for Tomorrow’s Health

Auteurs : M. Darvishian, A. Moustaqim-Barrette, P. Awadalla, P. Bhatti, P. Broet, R. A. Murphy, K. Skead, R. Urquhart, J. Vena, T. J. B. Dummer.

The researchers investigated how social and medical characteristics influence adherence to breast cancer screening in Canada. They used data from five regional cohorts of the Canadian Partnership for Tomorrow’s Health (CanPath): the BC Generations Project (BCGP), Alberta’s Tomorrow Project (ATP), the Ontario Health Study (OHS), Quebec’s CARTaGENE, and the Atlantic Partnership for Tomorrow’s Health Study (Atlantic PATH). They analyzed self-reported data on screening mammography among 79,986 participants aged 50-74 and 46,907 participants aged 40-49. Most participants reported undergoing screening within two years of enrollment, with rates ranging from 77.8% in OHS to 86.3% in BCGP. Factors linked to lower odds of screening included lower household income, being single or never married, current daily smoking, poor self-perceived health, no history of breastfeeding, and longer intervals since the last routine medical check-up. Among women aged 40-49 with a first-degree family history of breast cancer, screening adherence varied by region and was lower among those post-menopause or with longer intervals since medical check-ups. These findings highlight key factors for targeting underserved communities and suggest that early screening guidelines may benefit from considering regional differences and individual health characteristics.

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2025

Evaluating practical approaches for including MYOC variants alongside common variants for genetics-based risk stratification for glaucoma: Including MYOC Variants for Glaucoma Risk Stratification

Auteurs : N. Q. Le, W. He, M. H. Law, S. E. Medland, D. A. Mackey, A. W. Hewitt, P. Gharahkhani, S. MacGregor

The researchers investigated methods for identifying carriers of the p.Gln368Ter variant in the MYOC gene, associated with glaucoma risk, using data from the Genetics of Glaucoma (GOG), the QSkin Sun and Health Study (QSKIN), and CARTaGENE cohorts. They found that direct genotyping, with proper quality control measures, showed high accuracy and perfect concordance with sequencing data. Incorporating p.Gln368Ter status into polygenic risk scores (PRS) significantly improved risk stratification for carriers, increasing the proportion classified as high-risk in QSKIN and CARTaGENE. However, adding this variant to PRS did not enhance overall risk prediction for the general population.

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2025

RetroFun-RVS: A retrospective family-based framework for rare variant analysis incorporating functional annotations

Auteurs : L. Mangnier, I. Ruczinski, J. Ricard, C. Moreau, S. Girard, M. Maziade, A. Bureau.

The researchers explored how rare genetic variations contribute to complex diseases, particularly those located in noncoding regions of the genome, which are difficult to interpret. They used data from the CARTaGENE cohort as controls along with other cohort data to develop and test a new method called RetroFun-RVS. This method helps identify disease-related rare genetic variants by analyzing how they are shared among family members with the same condition.

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