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A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer's disease

By Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet Segre, Robert P Igo, Helene Choquet, Ayub Qassim, Navya S Josyula, Jessica N. Cooke Bailey, Pieter Bonnemaijer, Adriana Iglesias, Owen M Siggs, Terri Young, Veronique Vitart, Alberta A.H.J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen (CUHK), Ching-Yu Cheng, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23andMe Research Team, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, John Rouhana, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Adeyinka Ashaye, Olusola Olawoye, Susan E Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichito Kamatani, Masato Akiama, Yukihide Momozawa, Paul J Foster, Peng T. Khaw, James E Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae Hee Kang, Calvin Chi Pui Pang (CUHK), Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan Haines, Chris Hammond, Louis R. Pasquale, Caroline C.W. Klaver, Michael Hauser, Chiea Chuen Khor, David A Mackey, Michiaki Kubo, Tin Aung, Jamie Craig, Stuart MacGregor, Janey Wiggs

Posted 03 Feb 2020
bioRxiv DOI: 10.1101/2020.01.30.927822

We conducted a large multi-ethnic meta-analysis of genome-wide association studies for primary open-angle glaucoma (POAG) on a total of 34,179 cases vs 349,321 controls, and identified 127 independent risk loci, almost doubling the number of known loci for POAG. The majority of loci have broadly consistent effect across European, Asian and African ancestries. We identify a link, both genome-wide and at specific loci, between POAG and Alzheimer's disease. Gene expression data and bioinformatic functional analyses provide further support for the functional relevance of the POAG risk genes. Several drug compounds target these risk genes and may be potential candidates for developing novel POAG treatments.

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