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


Springelkamp, H and Hohn, R and Mishra, A and Hysi, PG and Khor, C-C and Loomis, SJ and Bailey, JNC and Gibson, J and Thorleifsson, G and Janssen, SF and Luo, X and Ramdas, WD and Vithana, E and Nongpiur, ME and Montogmery, GW and Xu, L and Mountain, JE and Gharahkhani, P and Lu, Y and Amin, N and Karssen, LC and Sim, K-S and Van Leeuwen, EM and Iglesias, AI and Verhoeven, VJM and Hauser, MA and Loon, S-C and Despriet, DDG and Nag, A and Venturini, C and Sanfilippo, PG and Schillert, A and Kang, JH and Landers, J and Jonasson, F and Cree, AJ and van Koolwijk, LM and Rivadeneira, F and Souzeau, E and Jonsson, V and Menon, G and Weinreb, RN and de Jong, PT and Oostra, BA and Uitterlinden, AG and Hofman, A and Ennis, S and Thorsteinsdottir, U and Burdon, KP and Spector, TD and Mirshahi, A and Saw, SM and Vingerling, JR and Teo, YY and Haines, JL and Klaver, CC and Wolfs, RC and Lemij, HG and Tai, ES and Jansonius, NM and Jonas, JB and Cheng, CY and Aung, T and Viswanathan, AC and Craig, JE and Macgregor, S and Mackey, DA and Lotery, AJ and Stefansson, K and Bergen, AAB and Young, TL and Wiggs, JL and Pfeiffer, N and Wong, T-Y and Pasquale, LR and Hewitt, A and van Dujin, CM and Hammond, CJ, Blue Mountains Eye Study - GWAS group; NEIGHBORHOOD Consortium; Wellcome Trust Case; Control Consortium 2 (WTCCC2), Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process, Nature Communications, 5 Article 4883. ISSN 2041-1723 (2014) [Refereed Article]


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Copyright 2014 Macmillan Publishers Limited . Licensed under Creative Commons Attribution 4.0 International License

DOI: doi:10.1038/ncomms5883


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.

Item Details

Item Type:Refereed Article
Keywords:glaucoma, risk factors, genetics, GWAS
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Mackey, DA (Professor David Mackey)
UTAS Author:Hewitt, A (Professor Alex Hewitt)
ID Code:99160
Year Published:2014
Web of Science® Times Cited:72
Deposited By:Menzies Institute for Medical Research
Deposited On:2015-03-16
Last Modified:2017-11-06
Downloads:106 View Download Statistics

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