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Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Author

Listed:
  • Henriët. Springelkamp

    (Erasmus Medical Center
    Erasmus Medical Center)

  • René Höhn

    (University Medical Center Mainz)

  • Aniket Mishra

    (Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital)

  • Pirro G. Hysi

    (King’s College London)

  • Chiea-Chuen Khor

    (National University of Singapore and National University Health System
    Genome Institute of Singapore)

  • Stephanie J. Loomis

    (Harvard Medical School and Massachusetts Eye and Ear Infirmary)

  • Jessica N. Cooke Bailey

    (Center for Human Genetics Research, Vanderbilt University School of Medicine
    Case Western Reserve University)

  • Jane Gibson

    (Centre for Biological Sciences, Faculty of Natural and Environmental Sciences, University of Southampton)

  • Gudmar Thorleifsson

    (deCODE/Amgen, Reykjavik 101, Iceland)

  • Sarah F. Janssen

    (The Netherlands Institute for Neuroscience (NIN), Royal Netherlands Academy of Arts and Sciences (KNAW))

  • Xiaoyan Luo

    (Duke University Eye Center)

  • Wishal D. Ramdas

    (Erasmus Medical Center)

  • Eranga Vithana

    (National University of Singapore and National University Health System
    Singapore Eye Research Institute, Singapore National Eye Centre
    Duke-National University of Singapore, Graduate Medical School)

  • Monisha E. Nongpiur

    (National University of Singapore and National University Health System
    Singapore Eye Research Institute, Singapore National Eye Centre)

  • Grant W. Montgomery

    (Molecular Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital)

  • Liang Xu

    (Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University
    Beijing Ophthalmology and Visual Science Key Lab)

  • Jenny E. Mountain

    (Telethon Institute for Child Health Research)

  • Puya Gharahkhani

    (Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital)

  • Yi Lu

    (Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital)

  • Najaf Amin

    (Erasmus Medical Center)

  • Lennart C. Karssen

    (Erasmus Medical Center)

  • Kar-Seng Sim

    (Genome Institute of Singapore)

  • Elisabeth M. van Leeuwen

    (Erasmus Medical Center)

  • Adriana I. Iglesias

    (Erasmus Medical Center)

  • Virginie J. M. Verhoeven

    (Erasmus Medical Center
    Erasmus Medical Center)

  • Michael A. Hauser

    (Duke University Medical Center)

  • Seng-Chee Loon

    (National University of Singapore and National University Health System)

  • Dominiek D. G. Despriet

    (Erasmus Medical Center)

  • Abhishek Nag

    (King’s College London)

  • Cristina Venturini

    (King’s College London
    UCL Institute of Ophthalmology)

  • Paul G. Sanfilippo

    (Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital)

  • Arne Schillert

    (Institute of Medical Biometry and Statistics, University of Lübeck)

  • Jae H. Kang

    (Brigham and Women's Hospital)

  • John Landers

    (Flinders University)

  • Fridbert Jonasson

    (Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland
    Landspitali National University Hospital)

  • Angela J. Cree

    (Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton)

  • Leonieke M. E. van Koolwijk

    (Erasmus Medical Center)

  • Fernando Rivadeneira

    (Erasmus Medical Center
    Erasmus Medical Center
    Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative)

  • Emmanuelle Souzeau

    (Flinders University)

  • Vesteinn Jonsson

    (Landspitali National University Hospital)

  • Geeta Menon

    (Frimley Park Hospital NHS Foundation Trust)

  • Robert N. Weinreb

    (University of California)

  • Paulus T. V. M. de Jong

    (Erasmus Medical Center
    Netherlands Institute for Neuroscience
    Academic Medical Center
    Leiden University Medical Center)

  • Ben A. Oostra

    (Erasmus Medical Center)

  • André G. Uitterlinden

    (Erasmus Medical Center
    Erasmus Medical Center
    Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative)

  • Albert Hofman

    (Erasmus Medical Center
    Netherlands Consortium for Healthy Ageing, Netherlands Genomics Initiative)

  • Sarah Ennis

    (Human Development and Health, Faculty of Medicine, University of Southampton)

  • Unnur Thorsteinsdottir

    (deCODE/Amgen, Reykjavik 101, Iceland
    Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland)

  • Kathryn P. Burdon

    (Flinders University)

  • Timothy D. Spector

    (King’s College London)

  • Alireza Mirshahi

    (University Medical Center Mainz)

  • Seang-Mei Saw

    (National University of Singapore and National University Health System
    Singapore Eye Research Institute, Singapore National Eye Centre
    Duke-National University of Singapore, Graduate Medical School
    Saw Swee Hock School of Public Health, National University of Singapore and National University Health System)

  • Johannes R. Vingerling

    (Erasmus Medical Center
    Erasmus Medical Center)

  • Yik-Ying Teo

    (Saw Swee Hock School of Public Health, National University of Singapore and National University Health System
    National University of Singapore)

  • Jonathan L. Haines

    (Center for Human Genetics Research, Vanderbilt University School of Medicine
    Case Western Reserve University)

  • Roger C. W. Wolfs

    (Erasmus Medical Center)

  • Hans G. Lemij

    (Glaucoma Service, The Rotterdam Eye Hospital)

  • E-Shyong Tai

    (Duke-National University of Singapore, Graduate Medical School
    Saw Swee Hock School of Public Health, National University of Singapore and National University Health System
    National University of Singapore and National University Health System)

  • Nomdo M. Jansonius

    (University of Groningen, University Medical Center Groningen)

  • Jost B. Jonas

    (Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University
    Medical Faculty Mannheim of the Ruprecht-Karls-University of Heidelberg, Seegartenklinik Heidelberg)

  • Ching-Yu Cheng

    (National University of Singapore and National University Health System
    Singapore Eye Research Institute, Singapore National Eye Centre
    Duke-National University of Singapore, Graduate Medical School)

  • Tin Aung

    (National University of Singapore and National University Health System
    Singapore Eye Research Institute, Singapore National Eye Centre)

  • Ananth C. Viswanathan

    (NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology)

  • Caroline C. W. Klaver

    (Erasmus Medical Center
    Erasmus Medical Center)

  • Jamie E. Craig

    (Flinders University)

  • Stuart Macgregor

    (Statistical Genetics, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital)

  • David A. Mackey

    (Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital
    Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia)

  • Andrew J. Lotery

    (Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton)

  • Kari Stefansson

    (deCODE/Amgen, Reykjavik 101, Iceland
    Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland)

  • Arthur A. B. Bergen

    (The Netherlands Institute for Neuroscience (NIN), Royal Netherlands Academy of Arts and Sciences (KNAW)
    Academic Medical Center
    Academic Medical Center)

  • Terri L. Young

    (Duke University Eye Center)

  • Janey L. Wiggs

    (Harvard Medical School and Massachusetts Eye and Ear Infirmary)

  • Norbert Pfeiffer

    (University Medical Center Mainz)

  • Tien-Yin Wong

    (National University of Singapore and National University Health System
    Singapore Eye Research Institute, Singapore National Eye Centre
    Duke-National University of Singapore, Graduate Medical School)

  • Louis R. Pasquale

    (Harvard Medical School and Massachusetts Eye and Ear Infirmary
    Brigham and Women's Hospital)

  • Alex W. Hewitt

    (Centre for Eye Research Australia (CERA), University of Melbourne, Royal Victorian Eye and Ear Hospital)

  • Cornelia M. van Duijn

    (Erasmus Medical Center)

  • Christopher J. Hammond

    (King’s College London)

Abstract

Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International Glaucoma Genetics Consortium conducts a meta-analysis of genome-wide association studies of vertical cup-disc ratio (VCDR), an important disease-related optic nerve parameter. In 21,094 individuals of European ancestry and 6,784 individuals of Asian ancestry, we identify 10 new loci associated with variation in VCDR. In a separate risk-score analysis of five case-control studies, Caucasians in the highest quintile have a 2.5-fold increased risk of primary open-angle glaucoma as compared with those in the lowest quintile. This study has more than doubled the known loci associated with optic disc cupping and will allow greater understanding of mechanisms involved in this common blinding condition.

Suggested Citation

  • Henriët. Springelkamp & René Höhn & Aniket Mishra & Pirro G. Hysi & Chiea-Chuen Khor & Stephanie J. Loomis & Jessica N. Cooke Bailey & Jane Gibson & Gudmar Thorleifsson & Sarah F. Janssen & Xiaoyan Lu, 2014. "Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process," Nature Communications, Nature, vol. 5(1), pages 1-7, December.
    • Handle: RePEc:nat:natcom:v:5:y:2014:i:1:d:10.1038_ncomms5883
    DOI: 10.1038/ncomms5883
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    Cited by:

    1. Quan Zhou & Jun Yang & Dootika Vats & Gareth O. Roberts & Jeffrey S. Rosenthal, 2022. "Dimension‐free mixing for high‐dimensional Bayesian variable selection," Journal of the Royal Statistical Society Series B, Royal Statistical Society, vol. 84(5), pages 1751-1784, November.

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