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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2014-12

AUTHORS

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, Blue Mountains Eye Study—GWAS group, Paul Mitchell, Jie Jin Wang, Elena Rochtchina, John Attia, Rodney Scott, Elizabeth G. Holliday, Tien-Yin Wong, Paul N. Baird, Jing Xie, Michael Inouye, Ananth Viswanathan, Xueling Sim, Robert N. Weinreb, Paulus T. V. M. de Jong, Ben A. Oostra, André G. Uitterlinden, Albert Hofman, Sarah Ennis, Unnur Thorsteinsdottir, Kathryn P. Burdon, NEIGHBORHOOD Consortium, R. Rand Allingham, Murray H. Brilliant, Donald L. Budenz, William G. Christen, John Fingert, David S. Friedman, Douglas Gaasterland, Terry Gaasterland, Jonathan L. Haines, Jae Hee Kang, Peter Kraft, Richard K. Lee, Paul R. Lichter, Yutao Liu, Sayoko E. Moroi, Louis R. Pasquale, Margaret A. Pericak-Vance, Anthony Realini, Julia E. Richards, Joel S. Schuman, William K. Scott, Kuldev Singh, Arthur J. Sit, Douglas Vollrath, Janey L. Wiggs, Gadi Wollstein, Donald J. Zack, Kang Zhang, Wellcome Trust Case Control Consortium, Peter Donnelly, Ines Barroso, Jenefer M. Blackwell, Elvira Bramon, Matthew A. Brown, Juan P. Casas, Aiden Corvin, Panos Deloukas, Audrey Duncanson, Janusz Jankowski, Hugh S. Markus, Christopher G. Mathew, Colin N. A. Palmer, Robert Plomin, Anna Rautanen, Stephen J. Sawcer, Richard C. Trembath, Ananth C. Viswanathan, Nicholas W. Wood, Chris C. A. Spencer, Gavin Band, Céline Bellenguez, Colin Freeman, Garrett Hellenthal, Eleni Giannoulatou, Matti Pirinen, Richard Pearson, Amy Strange, Zhan Su, Damjan Vukcevic, Peter Donnelly, Cordelia Langford, Sarah E. Hunt, Sarah Edkins, Rhian Gwilliam, Hannah Blackburn, Suzannah J. Bumpstead, Serge Dronov, Matthew Gillman, Emma Gray, Naomi Hammond, Alagurevathi Jayakumar, Owen T. McCann, Jennifer Liddle, Simon C. Potter, Radhi Ravindrarajah, Michelle Ricketts, Matthew Waller, Paul Weston, Sara Widaa, Pamela Whittaker, Ines Barroso, Christopher G. Mathew, Timothy D. Spector, Alireza Mirshahi, Seang-Mei Saw, Johannes R. Vingerling, Yik-Ying Teo, Roger C. W. Wolfs, Hans G. Lemij, E-Shyong Tai, Nomdo M. Jansonius, Jost B. Jonas, Ching-Yu Cheng, Tin Aung, Caroline C. W. Klaver, Jamie E. Craig, Stuart Macgregor, David A. Mackey, Andrew J. Lotery, Kari Stefansson, Arthur A. B. Bergen, Terri L. Young, Norbert Pfeiffer, Alex W. Hewitt, Cornelia M. van Duijn, Christopher J. Hammond

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. More... »

PAGES

4883

Journal

TITLE

Nature Communications

ISSUE

1

VOLUME

5

Author Affiliations

  • Erasmus University Medical Center
  • University Medical Center of the Johannes Gutenberg University Mainz
  • King's College London
  • Genome Institute of Singapore
  • Massachusetts Eye and Ear Infirmary
  • Case Western Reserve University
  • University of Southampton
  • Netherlands Institute for Neuroscience
  • Duke University
  • Duke NUS Graduate Medical School
  • Singapore National Eye Center
  • Beijing Tongren Hospital
  • Telethon Kids Institute
  • Duke Medical Center
  • University College London
  • University of Melbourne
  • University of Lübeck
  • Brigham and Women's Hospital
  • Flinders University
  • National University Hospital of Iceland
  • Wageningen University & Research
  • Frimley Park Hospital NHS Foundation Trust
  • University of Sydney
  • University of Newcastle Australia
  • National Institute for Health Research
  • National University of Singapore
  • University of California, San Diego
  • Leiden University Medical Center
  • University of Iceland
  • Duke University Hospital
  • Marshfield Clinic
  • University of North Carolina System
  • University of Iowa
  • Johns Hopkins University
  • Harvard University
  • University of Miami
  • University of Michigan–Ann Arbor
  • West Virginia University
  • University of Pittsburgh
  • Lucile Packard Children's Hospital
  • Mayo Clinic
  • University of Oxford
  • Wellcome Sanger Institute
  • University of Cambridge
  • University of Queensland
  • Trinity College Dublin
  • Wellcome Trust
  • Queen Mary University of London
  • St George's, University of London
  • Wellcome Centre for Human Genetics
  • Rotterdam Eye Hospital
  • University Medical Center Groningen
  • Capital Medical University
  • Academic Medical Center
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ncomms5883

    DOI

    http://dx.doi.org/10.1038/ncomms5883

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1050072336

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25241763


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