Nature Communications (Feb 2021)
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,
- NEIGHBORHOOD consortium,
- ANZRAG consortium,
- Biobank Japan project,
- FinnGen study,
- UK Biobank Eye and Vision Consortium,
- GIGA study group,
- 23 and Me Research Team,
- 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 van 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,
- Janey L. Wiggs
Affiliations
- Puya Gharahkhani
- QIMR Berghofer Medical Research Institute
- Eric Jorgenson
- Division of Research, Kaiser Permanente Northern California (KPNC)
- Pirro Hysi
- Twin Research and Genetic Epidemiology, King’s College London
- Anthony P. Khawaja
- NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology
- Sarah Pendergrass
- Geisinger Research, Biomedical and Translational Informatics Institute
- Xikun Han
- QIMR Berghofer Medical Research Institute
- Jue Sheng Ong
- QIMR Berghofer Medical Research Institute
- Alex W. Hewitt
- Menzies Institute for Medical Research, University of Tasmania
- Ayellet V. Segrè
- Department of Ophthalmology, Harvard Medical School
- John M. Rouhana
- Department of Ophthalmology, Harvard Medical School
- Andrew R. Hamel
- Department of Ophthalmology, Harvard Medical School
- Robert P. Igo
- Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine
- Helene Choquet
- Division of Research, Kaiser Permanente Northern California (KPNC)
- Ayub Qassim
- Department of Ophthalmology, Flinders University
- Navya S. Josyula
- Geisinger Research, Biomedical and Translational Informatics Institute
- Jessica N. Cooke Bailey
- Department of Population and Quantitative Health Sciences, 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
- Department of Ophthalmology, Flinders University
- Terri L. Young
- Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison
- Veronique Vitart
- Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh
- Alberta A. H. J. Thiadens
- Depatment of Ophthalmology, Erasmus MC
- Juha Karjalainen
- Institute for Molecular Medicine Finland, HiLIFE, University of Helsinki
- Steffen Uebe
- Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität, Erlangen-Nürnberg
- Ronald B. Melles
- Department of Ophthalmology, KPNC
- K. Saidas Nair
- Department of Ophthalmology, School of Medicine, University of California San Francisco (UCSF)
- Robert Luben
- Department of Public Health and Primary Care, Institute of Public Health, University of Cambridge School of Clinical Medicine
- Mark Simcoe
- Twin Research and Genetic Epidemiology, King’s College London
- Nishani Amersinghe
- University Hospital Southampton NHS Foundation Trust
- Angela J. Cree
- Faculty of Medicine, University of Southampton
- Rene Hohn
- Department of Ophthalmology, Inselspital, University Hospital Bern, University of Bern
- Alicia Poplawski
- Institute of Medical Biostatistics, Epidemiology and Informatics, University Medical Center Mainz
- Li Jia Chen
- Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong
- Shi-Song Rong
- Department of Ophthalmology, Harvard Medical School
- Tin Aung
- Singapore Eye Research Institute, Singapore National Eye Certre
- Eranga Nishanthie Vithana
- Singapore Eye Research Institute, Singapore National Eye Certre
- NEIGHBORHOOD consortium
- ANZRAG consortium
- Biobank Japan project
- FinnGen study
- UK Biobank Eye and Vision Consortium
- GIGA study group
- 23 and Me Research Team
- Gen Tamiya
- Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku
- Yukihiro Shiga
- Department of Ophthalmology, Tohoku University Graduate School of Medicine, 1-1, Seiryo-machi, Aoba-ku
- Masayuki Yamamoto
- Tohoku Medical Megabank Organization, Tohoku University, 2-1 Seiryo-machi, Aoba-ku
- Toru Nakazawa
- Department of Ophthalmology, Tohoku University Graduate School of Medicine, 1-1, Seiryo-machi, Aoba-ku
- Hannah Currant
- European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton
- Ewan Birney
- European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), 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
- Department of Ophthalmology, University of Ibadan
- Olusola Olawoye
- Department of Ophthalmology, University of Ibadan
- Susan E. Williams
- Division of Ophthalmology, Department of Neurosciences, University of the Witwatersrand
- Stephen Akafo
- Unit of Ophthalmology, Department of Surgery, University of Ghana Medical School
- Michele Ramsay
- Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand
- Kazuki Hashimoto
- Department of Ophthalmology, Tohoku University Graduate School of Medicine, 1-1, Seiryo-machi, Aoba-ku
- Yoichiro Kamatani
- Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences
- Masato Akiyama
- Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences
- Yukihide Momozawa
- Laboratory for Genotyping Development, 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 Centre for Vision Sciences, College of Biomedical and Life Sciences, Maindy Road, 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
- Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health
- Jae H. Kang
- Channing Division of Network Medicine, Brigham and Women’s Hospital, Harvard Medical School
- Chi Pui Pang
- Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong
- Francesca Pasutto
- Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität, Erlangen-Nürnberg
- Paul Mitchell
- Centre for Vision Research, Department of Ophthalmology and Westmead Institute for Medical Research, University of Sydney
- Andrew J. Lotery
- University Hospital Southampton NHS Foundation Trust
- Aarno Palotie
- Institute for Molecular Medicine Finland (FIMM), University of Helsinki
- Cornelia van Duijn
- Department of Epidemiology, Erasmus MC
- Jonathan L. Haines
- Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine
- Chris Hammond
- Twin Research and Genetic Epidemiology, King’s College London
- Louis R. Pasquale
- Department of Ophthalmology, Icahn School of Medicine at Mount Sinai
- Caroline C. W. Klaver
- Depatment of Ophthalmology, Erasmus MC
- Michael Hauser
- Department of Medicine, Duke University
- Chiea Chuen Khor
- Division of Human Genetics, Genome Institute of Singapore
- David A. Mackey
- Menzies Institute for Medical Research, University of Tasmania
- Michiaki Kubo
- RIKEN Center for Integrative Medical Sciences
- Ching-Yu Cheng
- Singapore Eye Research Institute, Singapore National Eye Certre
- Jamie E. Craig
- Department of Ophthalmology, Flinders University, Flinders Medical Centre
- Stuart MacGregor
- QIMR Berghofer Medical Research Institute
- Janey L. Wiggs
- Department of Ophthalmology, Harvard Medical School
- DOI
- https://doi.org/10.1038/s41467-020-20851-4
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 16
Abstract
Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities.
