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

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 Luo, Wishal D. Ramdas, Eranga Vithana, Monisha E. Nongpiur, Grant W. Montgomery, Liang Xu, Jenny E. Mountain, Puya Gharahkhani, Yi Lu, Najaf Amin, Lennart C. Karssen, Kar-Seng Sim, Elisabeth M. van Leeuwen, Adriana I. Iglesias, Virginie J. M. Verhoeven, Michael A. Hauser, Seng-Chee Loon, Dominiek D. G. Despriet, Abhishek Nag, Cristina Venturini, Paul G. Sanfilippo, Arne Schillert, Jae H. Kang, John Landers, Fridbert Jonasson, Angela J. Cree, Leonieke M. E. van Koolwijk, Fernando Rivadeneira, Emmanuelle Souzeau, Vesteinn Jonsson, Geeta Menon, Robert N. Weinreb, Paulus T. V. M. de Jong, Ben A. Oostra, André G. Uitterlinden, Albert Hofman, Sarah Ennis, Unnur Thorsteinsdottir, Kathryn P. Burdon, Timothy D. Spector, Alireza Mirshahi, Seang-Mei Saw, Johannes R. Vingerling, Yik-Ying Teo, Jonathan L. Haines, Roger C. W. Wolfs, Hans G. Lemij, E-Shyong Tai, Nomdo M. Jansonius, Jost B. Jonas, Ching-Yu Cheng, Tin Aung, Ananth C. Viswanathan, Caroline C. W. Klaver, Jamie E. Craig, Stuart Macgregor, David A. Mackey, Andrew J. Lotery, Kari Stefansson, Arthur A. B. Bergen, Terri L. Young, Janey L. Wiggs, Norbert Pfeiffer, Tien-Yin Wong, Louis R. Pasquale, Alex W. Hewitt, Cornelia M. van Duijn () and Christopher J. Hammond
Additional contact information
Henriët. Springelkamp: 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
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
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
Monisha E. Nongpiur: National University of Singapore and National University Health System
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
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
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
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
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
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
Ben A. Oostra: Erasmus Medical Center
André G. Uitterlinden: Erasmus Medical Center
Albert Hofman: Erasmus Medical Center
Sarah Ennis: Human Development and Health, Faculty of Medicine, University of Southampton
Unnur Thorsteinsdottir: deCODE/Amgen, 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
Johannes R. Vingerling: Erasmus Medical Center
Yik-Ying Teo: Saw Swee Hock School of Public Health, National University of Singapore and National University Health System
Jonathan L. Haines: Center for Human Genetics Research, Vanderbilt University School of Medicine
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
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
Ching-Yu Cheng: National University of Singapore and National University Health System
Tin Aung: National University of Singapore and National University Health System
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
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
Andrew J. Lotery: Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton
Kari Stefansson: deCODE/Amgen, Reykjavik 101, Iceland
Arthur A. B. Bergen: The Netherlands Institute for Neuroscience (NIN), Royal Netherlands Academy of Arts and Sciences (KNAW)
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
Louis R. Pasquale: Harvard Medical School and Massachusetts Eye and Ear Infirmary
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

Nature Communications, 2014, vol. 5, issue 1, 1-7

Abstract: 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.

Date: 2014
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DOI: 10.1038/ncomms5883

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