Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Puya Gharahkhani (), Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet V. Segrè, John M. Rouhana, Andrew R. Hamel, Robert P. Igo, Helene Choquet, Ayub Qassim, Navya S. Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri L. 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, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K. Lupton, Nicholas G. Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae H. Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia Duijn, Jonathan L. Haines, Chris Hammond, Louis R. Pasquale, Caroline C. W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E. Craig, Stuart MacGregor and Janey L. Wiggs
Additional contact information
Puya Gharahkhani: QIMR Berghofer Medical Research Institute
Eric Jorgenson: Kaiser Permanente Northern California (KPNC)
Pirro Hysi: King’s College London
Anthony P. Khawaja: Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology
Sarah Pendergrass: Biomedical and Translational Informatics Institute
Xikun Han: QIMR Berghofer Medical Research Institute
Jue Sheng Ong: QIMR Berghofer Medical Research Institute
Alex W. Hewitt: University of Tasmania
Ayellet V. Segrè: Harvard Medical School
John M. Rouhana: Harvard Medical School
Andrew R. Hamel: Harvard Medical School
Robert P. Igo: Case Western Reserve University School of Medicine
Helene Choquet: Kaiser Permanente Northern California (KPNC)
Ayub Qassim: Flinders University
Navya S. Josyula: Biomedical and Translational Informatics Institute
Jessica N. Cooke Bailey: Case Western Reserve University School of Medicine
Pieter W. M. Bonnemaijer: Depatment of Ophthalmology, Erasmus MC
Adriana Iglesias: Depatment of Ophthalmology, Erasmus MC
Owen M. Siggs: Flinders University
Terri L. Young: University of Wisconsin-Madison
Veronique Vitart: University of Edinburgh
Alberta A. H. J. Thiadens: Depatment of Ophthalmology, Erasmus MC
Juha Karjalainen: University of Helsinki
Steffen Uebe: Friedrich-Alexander-Universität, Erlangen-Nürnberg
Ronald B. Melles: Department of Ophthalmology, KPNC
K. Saidas Nair: University of California San Francisco (UCSF)
Robert Luben: University of Cambridge School of Clinical Medicine
Mark Simcoe: King’s College London
Nishani Amersinghe: University Hospital Southampton NHS Foundation Trust
Angela J. Cree: University of Southampton
Rene Hohn: University Hospital Bern, University of Bern
Alicia Poplawski: Epidemiology and Informatics, University Medical Center Mainz
Li Jia Chen: The Chinese University of Hong Kong
Shi-Song Rong: Harvard Medical School
Tin Aung: Singapore National Eye Certre
Eranga Nishanthie Vithana: Singapore National Eye Certre
Gen Tamiya: Tohoku University, 2-1 Seiryo-machi, Aoba-ku
Yukihiro Shiga: Tohoku University Graduate School of Medicine, 1-1, Seiryo-machi, Aoba-ku
Masayuki Yamamoto: Tohoku University, 2-1 Seiryo-machi, Aoba-ku
Toru Nakazawa: Tohoku University Graduate School of Medicine, 1-1, Seiryo-machi, Aoba-ku
Hannah Currant: Wellcome Genome Campus, Hinxton
Ewan Birney: Wellcome Genome Campus, Hinxton
Xin Wang: 23 and Me Inc.
Adam Auton: 23 and Me Inc.
Michelle K. Lupton: QIMR Berghofer Medical Research Institute
Nicholas G. Martin: QIMR Berghofer Medical Research Institute
Adeyinka Ashaye: University of Ibadan
Olusola Olawoye: University of Ibadan
Susan E. Williams: University of the Witwatersrand
Stephen Akafo: University of Ghana Medical School
Michele Ramsay: University of the Witwatersrand
Kazuki Hashimoto: Tohoku University Graduate School of Medicine, 1-1, Seiryo-machi, Aoba-ku
Yoichiro Kamatani: RIKEN Center for Integrative Medical Sciences
Masato Akiyama: RIKEN Center for Integrative Medical Sciences
Yukihide Momozawa: RIKEN Center for Integrative Medical Sciences
Paul J. Foster: National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust & UCL Institute of Ophthalmology
Peng T. Khaw: National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust & UCL Institute of Ophthalmology
James E. Morgan: Cardiff University
Nicholas G. Strouthidis: National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust & UCL Institute of Ophthalmology
Peter Kraft: Harvard T.H. Chan School of Public Health
Jae H. Kang: Harvard Medical School
Chi Pui Pang: The Chinese University of Hong Kong
Francesca Pasutto: Friedrich-Alexander-Universität, Erlangen-Nürnberg
Paul Mitchell: University of Sydney
Andrew J. Lotery: University Hospital Southampton NHS Foundation Trust
Aarno Palotie: University of Helsinki
Cornelia Duijn: Department of Epidemiology, Erasmus MC
Jonathan L. Haines: Case Western Reserve University School of Medicine
Chris Hammond: King’s College London
Louis R. Pasquale: Icahn School of Medicine at Mount Sinai
Caroline C. W. Klaver: Depatment of Ophthalmology, Erasmus MC
Michael Hauser: Duke University
Chiea Chuen Khor: Genome Institute of Singapore
David A. Mackey: University of Tasmania
Michiaki Kubo: RIKEN Center for Integrative Medical Sciences
Ching-Yu Cheng: Singapore National Eye Certre
Jamie E. Craig: Flinders University, Flinders Medical Centre
Stuart MacGregor: QIMR Berghofer Medical Research Institute
Janey L. Wiggs: Harvard Medical School

Nature Communications, 2021, vol. 12, issue 1, 1-16

Abstract: Abstract Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates.

Date: 2021
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DOI: 10.1038/s41467-020-20851-4

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