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

Author

Listed:
  • 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
    University of Cambridge School of Clinical Medicine)

  • 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
    University of Melbourne)

  • 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
    Case Western Reserve University School of Medicine)

  • Pieter W. M. Bonnemaijer

    (Depatment of Ophthalmology, Erasmus MC
    Department of Epidemiology, Erasmus MC
    The Rotterdam Eye Hospital)

  • Adriana Iglesias

    (Depatment of Ophthalmology, Erasmus MC
    Department of Epidemiology, Erasmus MC
    Department of Clinical Genetics, 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
    Department of Epidemiology, Erasmus MC)

  • Juha Karjalainen

    (University of Helsinki
    Broad Institute of the Massachusetts Institute of Technology and Harvard University
    Massachusetts General Hospital and Harvard Medical School)

  • 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
    Kings College London
    University College London)

  • Nishani Amersinghe

    (University Hospital Southampton NHS Foundation Trust)

  • Angela J. Cree

    (University of Southampton)

  • Rene Hohn

    (University Hospital Bern, University of Bern
    University Medical Center Mainz)

  • Alicia Poplawski

    (Epidemiology and Informatics, University Medical Center Mainz)

  • Li Jia Chen

    (The Chinese University of Hong Kong)

  • Shi-Song Rong

    (Harvard Medical School
    The Chinese University of Hong Kong)

  • Tin Aung

    (Singapore National Eye Certre
    Duke-NUS Medical School
    National University of Singapore)

  • Eranga Nishanthie Vithana

    (Singapore National Eye Certre
    Duke-National University of Singapore Medical School)

  • Gen Tamiya

    (Tohoku University, 2-1 Seiryo-machi, Aoba-ku
    RIKEN Center for Advanced Intelligence Project, 1-4-1 Nihonbashi)

  • 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
    Tohoku University Graduate School of Medicine, 1-1, Seiryo-machi, Aoba-ku
    Tohoku University Graduate School of Medicine, 1-1, Seiryo-machi, Aoba-ku
    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
    The University of Tokyo)

  • Masato Akiyama

    (RIKEN Center for Integrative Medical Sciences
    Kyushu University)

  • 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
    University College London)

  • 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
    University College London)

  • 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
    University College London)

  • 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
    University of Southampton)

  • Aarno Palotie

    (University of Helsinki
    Massachusetts General Hospital
    Broad Institute of MIT and Harvard)

  • Cornelia Duijn

    (Department of Epidemiology, Erasmus MC
    University of Oxford)

  • Jonathan L. Haines

    (Case Western Reserve University School of Medicine
    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
    Department of Epidemiology, Erasmus MC
    Radboud University Medical Center
    Institute for Molecular and Clinical Ophthalmology)

  • Michael Hauser

    (Duke University
    Duke University
    Singapore Eye Research Institute
    Duke-NUS Medical School)

  • Chiea Chuen Khor

    (Genome Institute of Singapore)

  • David A. Mackey

    (University of Tasmania
    University of Melbourne
    University of Western Australia, Lions Eye Institute)

  • Michiaki Kubo

    (RIKEN Center for Integrative Medical Sciences)

  • Ching-Yu Cheng

    (Singapore National Eye Certre
    Duke-NUS Medical School
    National University of Singapore)

  • Jamie E. Craig

    (Flinders University, Flinders Medical Centre)

  • Stuart MacGregor

    (QIMR Berghofer Medical Research Institute)

  • Janey L. Wiggs

    (Harvard Medical School)

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.

Suggested Citation

  • 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. , 2021. "Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries," Nature Communications, Nature, vol. 12(1), pages 1-16, December.
    • Handle: RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-020-20851-4
    DOI: 10.1038/s41467-020-20851-4
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