Publications

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

2025

Uromodulin and risk of upper urinary tract infections: A Mendelian randomization study

Authors: K. Vardheim Liyanarachi, H. Flatby, S. Hallan, B.O. Åsvold, J. K. Damås, T. Rogne

The researchers examined whether uromodulin, a protein produced by the kidneys, helps protect against upper urinary tract infections using data from the CARTaGENE cohort and other large datasets. They used a genetic approach called Mendelian randomization. The study included participants with measured urinary uromodulin levels and individuals with or without upper urinary tract infections. Their analysis showed that higher genetically predicted levels of urinary uromodulin were linked to a lower risk of these infections. These findings suggest that uromodulin may play a protective role in preventing upper urinary tract infections.

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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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