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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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Authors
Springelkamp, Henriët
Höhn, René
Mishra, Aniket
Hysi, Pirro G
Khor, Chiea-Chuen
Loomis, Stephanie J
Bailey, Jessica N Cooke
Gibson, Jane
Thorleifsson, Gudmar
Janssen, Sarah F
Luo, Xiaoyan
Ramdas, Wishal D
Vithana, Eranga
Nongpiur, Monisha E
Montgomery, Grant W
Xu, Liang
Mountain, Jenny E
Gharahkhani, Puya
Lu, Yi
Amin, Najaf
Karssen, Lennart C
Sim, Kar-Seng
van Leeuwen, Elisabeth M
Iglesias, Adriana I
Verhoeven, Virginie J M
Hauser, Michael A
Loon, Seng-Chee
Despriet, Dominiek D G
Nag, Abhishek
Venturini, Cristina
Sanfilippo, Paul G
Schillert, Arne
Kang, Jae H
Landers, John
Jonasson, Fridbert
Cree, Angela J
van Koolwijk, Leonieke M E
Rivadeneira, Fernando
Souzeau, Emmanuelle
Jonsson, Vesteinn
Menon, Geeta
Weinreb, Robert N
de Jong, Paulus T V M
Oostra, Ben A
Uitterlinden, André G
Hofman, Albert
Ennis, Sarah
Thorsteinsdottir, Unnur
Burdon, Kathryn P
Spector, Timothy D
Mirshahi, Alireza
Saw, Seang-Mei
Vingerling, Johannes R
Teo, Yik-Ying
Haines, Jonathan L
Wolfs, Roger C W
Lemij, Hans G
Tai, E-Shyong
Jansonius, Nomdo M
Jonas, Jost B
Cheng, Ching-Yu
Aung, Tin
Viswanathan, Ananth C
Klaver, Caroline C W
Craig, Jamie E
Macgregor, Stuart
Mackey, David A
Lotery, Andrew J
Stefansson, Kari
Bergen, Arthur A B
Young, Terri L
Wiggs, Janey L
Pfeiffer, Norbert
Wong, Tien-Yin
Pasquale, Louis R
Hewitt, Alex W
van Duijn, Cornelia M
Hammond, Christopher J
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Issue Date
2014

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Citation
Nat Commun. 2014, 5:4883
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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To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.
Additional Links
http://dx.doi.org/10.1038/ncomms5883
http://www.nature.com/ncomms/2014/140922/ncomms5883/pdf/ncomms5883.pdf
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Archived with thanks to Nature communications
ae974a485f413a2113503eed53cd6c53
10.1038/ncomms5883
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