Publications

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

2023

150 risk variants for diverticular disease of intestine prioritize cell types and enable polygenic prediction of disease susceptibility

Authors: Yeda Wu, Slavina B. Goleva, Lindsay B. Breidenbach, Minsoo Kim, Stuart MacGregor, Michael J. Gandal, Lea K. Davis, Naomi R. Wray

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.

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2022

The cell-free DNA methylome captures distinctions between localized and metastatic prostate tumors

Authors: S. J. Chen, J. Petricca, W. Ye, J. Guan, Y. Zeng, N. Cheng, L. Gong, S. Y. Shen, J. T. Hua, M. Crumbaker, M. Fraser, S. Liu, S. V. Bratman, T. van der Kwast, T. Pugh, A. M. Joshua, D. D. De Carvalho, K. N. Chi, P. Awadalla, G. Ji, F. Feng, A. W. Wyatt, H. H. He.

The researchers investigated how liquid biopsy using cell-free DNA (cfDNA) methylome analysis can provide insights into the biology of metastatic prostate cancer (mPCa). They analyzed plasma DNA methylomes from 60 patients with localized prostate cancer and 175 patients with metastatic disease. Their findings revealed global hypermethylation in metastatic samples, accompanied by hypomethylation in pericentromeric regions. The authors suggest that liquid biopsy offers a minimally invasive and accurate approach to assess disease progression and potential therapeutic targets in prostate cancer.

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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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