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

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
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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Springelkamp, Henriët
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Höhn, René
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Mishra, Aniket
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Hysi, Pirro G.
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Khor, Chiea-Chuen
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Loomis, Stephanie J.
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Ramdas, Wishal D.
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Gharahkhani, Puya
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Lu, Yi
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van Leeuwen, Elisabeth M.
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Kang, Jae H.
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Landers, John
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Jonasson, Fridbert
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Cree, Angela J.
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van Koolwijk, Leonieke M.E.
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Rivadeneira, Fernando
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Jonsson, Vesteinn
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Menon, Geeta
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Mitchell, Paul
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Wang, Jie Jin
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Rochtchina, Elena
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Attia, John
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Ennis, Sarah
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Lotery, Andrew J.
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Wellcome Trust Case Control Consortium 2
Blue Mountains Eye Study-GWAS Gp
NEIGHBORHOOD Consortium
Springelkamp, Henriët
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Höhn, René
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Mishra, Aniket
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Hysi, Pirro G.
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Khor, Chiea-Chuen
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Loomis, Stephanie J.
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Bailey, Jessica N. Cooke
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Gibson, Jane
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Nongpiur, Monisha E.
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Montgomery, Grant W.
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Despriet, Dominiek D.G.
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Venturini, Cristina
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Sanfilippo, Paul G.
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Schillert, Arne
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Kang, Jae H.
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Landers, John
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Jonasson, Fridbert
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Cree, Angela J.
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van Koolwijk, Leonieke M.E.
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Rivadeneira, Fernando
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Souzeau, Emmanuelle
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Jonsson, Vesteinn
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Menon, Geeta
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Wang, Jie Jin
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Rochtchina, Elena
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Attia, John
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Holliday, Elizabeth G.
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Ennis, Sarah
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Lotery, Andrew J.
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Wellcome Trust Case Control Consortium 2, Blue Mountains Eye Study-GWAS Gp and NEIGHBORHOOD Consortium (2014) Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nature Communications, 5, 1-17, [4883]. (doi:10.1038/ncomms5883).

Record type: Article

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.

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Accepted/In Press date: 4 August 2014
e-pub ahead of print date: 22 September 2014
Organisations: Human Development & Health, Centre for Biological Sciences, Clinical & Experimental Sciences
Learn more about Biological Sciences research

Identifiers

Local EPrints ID: 369296
URI: http://eprints.soton.ac.uk/id/eprint/369296
DOI: doi:10.1038/ncomms5883
PURE UUID: 22a9f426-e3b8-4d38-9b23-e6370868df70
ORCID for Jane Gibson: ORCID iD orcid.org/0000-0002-0973-8285
ORCID for Angela J. Cree: ORCID iD orcid.org/0000-0002-1987-8900
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869
ORCID for Andrew J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

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Date deposited: 30 Sep 2014 12:58
Last modified: 15 Mar 2024 03:24

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Contributors

Author: Henriët Springelkamp
Author: René Höhn
Author: Aniket Mishra
Author: Pirro G. Hysi
Author: Chiea-Chuen Khor
Author: Stephanie J. Loomis
Author: Jessica N. Cooke Bailey
Author: Jane Gibson ORCID iD
Author: Gudmar Thorleifsson
Author: Sarah F. Janssen
Author: Xiaoyan Luo
Author: Wishal D. Ramdas
Author: Eranga Vithana
Author: Monisha E. Nongpiur
Author: Grant W. Montgomery
Author: Liang Xu
Author: Jenny E. Mountain
Author: Puya Gharahkhani
Author: Yi Lu
Author: Najaf Amin
Author: Lennart C. Karssen
Author: Kar-Seng Sim
Author: Elisabeth M. van Leeuwen
Author: Adriana I. Iglesias
Author: Virginie J.M. Verhoeven
Author: Michael A. Hauser
Author: Seng-Chee Loon
Author: Dominiek D.G. Despriet
Author: Abhishek Nag
Author: Cristina Venturini
Author: Paul G. Sanfilippo
Author: Arne Schillert
Author: Jae H. Kang
Author: John Landers
Author: Fridbert Jonasson
Author: Angela J. Cree ORCID iD
Author: Leonieke M.E. van Koolwijk
Author: Fernando Rivadeneira
Author: Emmanuelle Souzeau
Author: Vesteinn Jonsson
Author: Geeta Menon
Author: Paul Mitchell
Author: Jie Jin Wang
Author: Elena Rochtchina
Author: John Attia
Author: Rodney Scott
Author: Elizabeth G. Holliday
Author: Tien-Yin Wong
Author: Sarah Ennis ORCID iD
Author: Andrew J. Lotery ORCID iD
Corporate Author: Wellcome Trust Case Control Consortium 2
Corporate Author: Blue Mountains Eye Study-GWAS Gp
Corporate Author: NEIGHBORHOOD Consortium

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