Publications

These publications are examples of research made possible with data from CanPath and its regional cohorts.

2023

Plant-based dietary patterns and genetic susceptibility to obesity in the CARTaGENE cohort

Authors: Guiomar Masip, Atheer Attar, Daiva E Nielsen

Researchers explored whether adherence to three plant-based dietary indices (PDIs) mediated or moderated genetic susceptibility to obesity. The study included 7,037 adults from the CARTaGENE cohort. Obesity outcomes were found to be significantly associated with overall- and healthy-PDIs and polygenic risk scores (PRSs). Adherence to PDIs neither mediated nor moderated genetic susceptibility to obesity. Higher levels of meat consumption were positively associated with obesity, while increased levels of whole grain intake were negatively associated with obesity outcomes.

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2023

Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

Authors: Y. Wang, S. Namba, E. Lopera, S. Kerminen, K. Tsuo, K. Läll, M. Kanai, W. Zhou, K. H. Wu, M. J. Favé, L. Bhatta, P. Awadalla, B. Brumpton, P. Deelen, K. Hveem, V. Lo Faro, R. Mägi, Y. Murakami, S. Sanna, J. W. Smoller, J. Uzunovic, B. N. Wolford, C. Willer, E. R. Gamazon, N. J. Cox, I. Surakka, Y. Okada, A. R. Martin, J. Hirbo

The researchers assessed the performance of polygenic risk scores (PRSs) in predicting disease risk across diverse global populations using data from the Global Biobank Meta-analysis Initiative (GBMI). They constructed PRSs using two methods: pruning and thresholding (P + T) and PRS-continuous shrinkage (CS). Data from nine biobanks, including the Ontario Health Study, were analyzed for 14 different disease endpoints. Results showed that PRS-CS generally outperformed the P + T method, particularly for diseases with higher SNP-based heritability.

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2022

Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

Authors: Wei Zhou, Masahiro Kanai, Kuan-Han H Wu, Humaira Rasheed, Kristin Tsuo, Jibril B Hirbo, Ying Wang, Arjun Bhattacharya, Huiling Zhao, Shinichi Namba, Ida Surakka, Brooke N Wolford, Valeria Lo Faro, Esteban A Lopera-Maya, Kristi Läll, Marie-Julie Favé, Juulia J Partanen, Sinéad B Chapman, Juha Karjalainen, Mitja Kurki, Mutaamba Maasha, Ben M Brumpton, Sameer Chavan, Tzu-Ting Chen, Michelle Daya, Yi Ding, Yen-Chen A Feng, Lindsay A Guare, Christopher R Gignoux, Sarah E Graham, Whitney E Hornsby, Nathan Ingold, Said I Ismail, Ruth Johnson, Triin Laisk, Kuang Lin, Jun Lv, Iona Y Millwood, Sonia Moreno-Grau, Kisung Nam, Priit Palta, Anita Pandit, Michael H Preuss, Chadi Saad, Shefali Setia-Verma, Unnur Thorsteinsdottir, Jasmina Uzunovic, Anurag Verma, Matthew Zawistowski, Xue Zhong, Nahla Afifi, Kawthar M Al-Dabhani, Asma Al Thani, Yuki Bradford, Archie Campbell, Kristy Crooks, Geertruida H de Bock, Scott M Damrauer, Nicholas J Douville, Sarah Finer, Lars G Fritsche, Eleni Fthenou, Gilberto Gonzalez-Arroyo, Christopher J Griffiths, Yu Guo, Karen A Hunt, Alexander Ioannidis, Nomdo M Jansonius, Takahiro Konuma, Ming Ta Michael Lee, Arturo Lopez-Pineda, Yuta Matsuda, Riccardo E Marioni, Babak Moatamed, Marco A Nava-Aguilar, Kensuke Numakura, Snehal Patil, Nicholas Rafaels, Anne Richmond, Agustin Rojas-Muñoz, Jonathan A Shortt, Peter Straub, Ran Tao, Brett Vanderwerff, Manvi Vernekar, Yogasudha Veturi, Kathleen C Barnes, Marike Boezen, Zhengming Chen, Chia-Yen Chen, Judy Cho, George Davey Smith, Hilary K Finucane, Lude Franke, Eric R Gamazon, Andrea Ganna, Tom R Gaunt, Tian Ge, Hailiang Huang, Jennifer Huffman, Nicholas Katsanis, Jukka T Koskela, Clara Lajonchere, Matthew H Law, Liming Li, Cecilia M Lindgren, Ruth J F Loos, Stuart MacGregor, Koichi Matsuda, Catherine M Olsen, David J Porteous, Jordan A Shavit, Harold Snieder, Tomohiro Takano, Richard C Trembath, Judith M Vonk, David C Whiteman, Stephen J Wicks, Cisca Wijmenga, John Wright, Jie Zheng, Xiang Zhou, Philip Awadalla, Michael Boehnke, Carlos D Bustamante, Nancy J Cox, Segun Fatumo, Daniel H Geschwind, Caroline Hayward, Kristian Hveem, Eimear E Kenny, Seunggeun Lee, Yen-Feng Lin, Hamdi Mbarek, Reedik Mägi, Hilary C Martin, Sarah E Medland, Yukinori Okada, Aarno V Palotie, Bogdan Pasaniuc, Daniel J Rader, Marylyn D Ritchie, Serena Sanna, Jordan W Smoller, Kari Stefansson, David A van Heel, Robin G Walters, Sebastian Zöllner; Biobank of the Americas; Biobank Japan Project; BioMe; BioVU; CanPath - Ontario Health Study; China Kadoorie Biobank Collaborative Group; Colorado Center for Personalized Medicine; deCODE Genetics; Estonian Biobank; FinnGen; Generation Scotland; Genes & Health Research Team; LifeLines; Mass General Brigham Biobank; Michigan Genomics Initiative; National Biobank of Korea; Penn Medicine BioBank; Qatar Biobank; QSkin Sun and Health Study; Taiwan Biobank; HUNT Study; UCLA ATLAS Community Health Initiative; Uganda Genome Resource; UK Biobank; Alicia R Martin, Cristen J Willer, Mark J Daly, Benjamin M Neale

The Global Biobank Meta-analysis Initiative is a collaborative network of 23 biobanks, representing more than 2.2M consented participants with genetic data linked to electronic health records. This collaborative effort will improve genome-wide association studies’ power for diseases, benefit understudied diseases, and improve risk prediction.

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2018

The National Cancer Institute Cohort Consortium: An International Pooling Collaboration of 58 Cohorts from 20 Countries

Authors: Anthony Swerdlow, Chinonye Harvey, Roger Milne, Camille Pottinger, Celine Vachon, Lynne Wilkenes, Susan Gapstur, Mattias Johansson, Elisabete Weiderpass, Deborah Winn

The NCI Cohort Consortium was founded in 2001 and brings together 58 cancer epidemiology cohorts from 20 countries to undertake large-scale pooling research. This article outlines the structure, governance, methods of working, and the participating cohorts (including CanPath), publications and activities of the consortium.

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