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; Christopher J Hammond; Blue Mountains Eye Study—GWAS group; Panos Deloukas

doi:10.1038/ncomms5883

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

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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, …

Nature communications, Vol.5(1), pp.4883-4883

22/09/2014

DOI: https://doi.org/10.1038/ncomms5883

PMCID: PMC4199103

PMID: 25241763

Abstract

Asians - genetics

Case-Control Studies

Gene Expression Profiling

Gene Frequency

Genome-Wide Association Study

Genotype

Glaucoma - ethnology

Glaucoma - genetics

Glaucoma - physiopathology

Humans

Optic Disk - pathology

Optic Nerve - pathology

Phenotype

Polymorphism, Single Nucleotide

Whites - genetics

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.

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Title: Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Creators - without role: Henriët Springelkamp - 1] Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
René Höhn - Department of Ophthalmology, University Medical Center Mainz, Mainz 55131, Germany
Aniket Mishra - QIMR Berghofer Medical Research Institute
Pirro G Hysi - King's College London
Chiea-Chuen Khor - Duke-NUS Medical School
Stephanie J Loomis - Massachusetts Eye and Ear Infirmary
Jessica N Cooke Bailey - Case Western Reserve University
Jane Gibson - University of Southampton
Gudmar Thorleifsson - deCODE/Amgen, Reykjavik 101, Iceland
Sarah F Janssen - Royal Netherlands Academy of Arts and Sciences
Xiaoyan Luo - Duke University
Wishal D Ramdas - Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
Eranga Vithana - Duke-NUS Medical School
Monisha E Nongpiur - 1] Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119077, Singapore Singapore Eye Research Institute, Singapore National Eye Centre, Singapore 168751, Singapore
Grant W Montgomery - QIMR Berghofer Medical Research Institute
Liang Xu - Capital Medical University
Jenny E Mountain - Telethon Kids Institute
Puya Gharahkhani - QIMR Berghofer Medical Research Institute
Yi Lu - QIMR Berghofer Medical Research Institute
Najaf Amin - Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
Lennart C Karssen - Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
Kar-Seng Sim - Genome Institute of Singapore
Elisabeth M van Leeuwen - Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
Adriana I Iglesias - Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
Virginie J M Verhoeven - 1] Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
Michael A Hauser - Duke Medical Center
Seng-Chee Loon - Department of Ophthalmology, National University of Singapore and National University Health System, Singapore 119077, Singapore
Dominiek D G Despriet - Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
Abhishek Nag - King's College London
Cristina Venturini - King's College London
Paul G Sanfilippo - University of Melbourne
Arne Schillert - University of Lübeck
Jae H Kang - Brigham and Women's Hospital
John Landers - Flinders University
Fridbert Jonasson - University of Iceland
Angela J Cree - University of Southampton
Leonieke M E van Koolwijk - Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
Fernando Rivadeneira - Netherlands Consortium for Healthy Ageing
Emmanuelle Souzeau - Flinders University
Vesteinn Jonsson - Department of Ophthalmology, Landspitali National University Hospital, Reykjavik 101, Iceland
Geeta Menon - Frimley Park Hospital
Robert N Weinreb - University of California, San Diego
Paulus T V M de Jong - Leiden University Medical Center
Ben A Oostra - Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
André G Uitterlinden - Netherlands Consortium for Healthy Ageing
Albert Hofman - Netherlands Consortium for Healthy Ageing
Sarah Ennis - University of Southampton
Unnur Thorsteinsdottir - University of Iceland
Kathryn P Burdon - Flinders University
Timothy D Spector - King's College London
Alireza Mirshahi - Department of Ophthalmology, University Medical Center Mainz, Mainz 55131, Germany
Seang-Mei Saw - Duke-NUS Medical School
Johannes R Vingerling - 1] Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
Yik-Ying Teo - 1] Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore Department of Statistics and Applied Probability, National University of Singapore, Singapore 119077, Singapore
Jonathan L Haines - Case Western Reserve University
Roger C W Wolfs - Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
Hans G Lemij - Rotterdam Eye Hospital
E-Shyong Tai - 1] Duke-National University of Singapore, Graduate Medical School, Singapore 169857, Singapore Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore 117597, Singapore Department of Medicine, National University of Singapore and National University Health System, Singapore 119077, Singapore
Nomdo M Jansonius - University Medical Center Groningen
Jost B Jonas - Capital Medical University
Ching-Yu Cheng - Duke-NUS Medical School
Tin Aung - Duke-NUS Medical School
Ananth C Viswanathan - Moorfields Eye Hospital NHS Foundation Trust
Caroline C W Klaver - 1] Department of Ophthalmology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
Jamie E Craig - Flinders University
Stuart Macgregor - QIMR Berghofer Medical Research Institute
David A Mackey - University of Western Australia
Andrew J Lotery - University of Southampton
Kari Stefansson - University of Iceland
Arthur A B Bergen - Royal Netherlands Academy of Arts and Sciences
Terri L Young - Duke University
Janey L Wiggs - Massachusetts Eye and Ear Infirmary
Norbert Pfeiffer - Department of Ophthalmology, University Medical Center Mainz, Mainz 55131, Germany
Tien-Yin Wong - Duke-NUS Medical School
Louis R Pasquale - Massachusetts Eye and Ear Infirmary
Alex W Hewitt - University of Melbourne
Cornelia M van Duijn - Department of Epidemiology, Erasmus Medical Center, Rotterdam 3000 CA, The Netherlands
Christopher J Hammond - King's College London
Blue Mountains Eye Study—GWAS group
Panos Deloukas - King Abdulaziz University
Publication Details: Nature communications, Vol.5(1), pp.4883-4883
Grant note: EY013178 / NEI NIH HHS EY18660 / NEI NIH HHS P30 EY014104 / NEI NIH HHS CA87969 / NCI NIH HHS EY011671 / NEI NIH HHS EY008208 / NEI NIH HHS PG/13/66/30442 / British Heart Foundation R01 EY023512 / NEI NIH HHS HL073389 / NHLBI NIH HHS HHSN268200782096C / NHGRI NIH HHS R01 EY014685 / NEI NIH HHS EY144428 / NEI NIH HHS T32 EY21453-2 / NEI NIH HHS EY010886 / NEI NIH HHS HL73042 / NHLBI NIH HHS G0400126 / Medical Research Council HG005259-01 / NHGRI NIH HHS U01 HG004446 / NHGRI NIH HHS R01EY022305 / NEI NIH HHS 085475/Z/08/Z / Wellcome Trust EY009847 / NEI NIH HHS 076113 / Wellcome Trust EY144448 / NEI NIH HHS SRF/01/010 / Department of Health EY015473 / NEI NIH HHS CA49449 / NCI NIH HHS R01 EY022306 / NEI NIH HHS RR015574 / NCRR NIH HHS HG004608 / NHGRI NIH HHS EY009149 / NEI NIH HHS T32 EY021453 / NEI NIH HHS 3R01EY019126-02S1 / NEI NIH HHS CA55075 / NCI NIH HHS R01 EY022305 / NEI NIH HHS R01 EY015473 / NEI NIH HHS U01-HG004424 / NHGRI NIH HHS 085475/B/08/Z / Wellcome Trust EY13315 / NEI NIH HHS EY011008 / NEI NIH HHS 3R01EY015872-05S1 / NEI NIH HHS EY015872 / NEI NIH HHS EY006827 / NEI NIH HHS EY015682 / NEI NIH HHS EY012118 / NEI NIH HHS U01 HG004728 / NHGRI NIH HHS EY015543 / NEI NIH HHS P30EY014104 / NEI NIH HHS EY09580 / NEI NIH HHS T32 EY007157 / NEI NIH HHS HG004728 / NHGRI NIH HHS
Identifiers: 9936537408331
Academic Unit: King Abdulaziz University
Language: English
Resource Type: Journal article