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Title: Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Authors: Springelkamp, H
Höhn, R
Mishra, A
Hysi, P.G
Khor, C.-C 
Loomis, S.J
Bailey, J.N.C
Gibson, J
Thorleifsson, G
Janssen, S.F
Luo, X
Ramdas, W.D
Vithana, E 
Nongpiur, M.E 
Montgomery, G.W
Xu, L
Mountain, J.E
Gharahkhani, P
Lu, Y
Amin, N
Karssen, L.C
Sim, K.-S
Van Leeuwen, E.M
Iglesias, A.I
Verhoeven, V.J.M
Hauser, M.A 
Loon, S.-C 
Despriet, D.D.G
Nag, A
Venturini, C
Sanfilippo, P.G
Schillert, A
Kang, J.H
Landers, J
Jonasson, F
Cree, A.J
Van Koolwijk, L.M.E
Rivadeneira, F
Souzeau, E
Jonsson, V
Menon, G
Mitchell, P
Wang, J.J
Rochtchina, E
Attia, J
Scott, R
Holliday, E.G
Baird, P.N
Xie, J
Inouye, M
Viswanathan, A
Sim, X 
Weinreb, R.N
De Jong, P.T.V.M
Oostra, B.A
Uitterlinden, A.G
Hofman, A
Ennis, S
Thorsteinsdottir, U
Burdon, K.P
Allingham, R.R 
Brilliant, M.H
Budenz, D.L
Christen, W.G
Fingert, J
Friedman, D.S
Gaasterland, D
Gaasterland, T
Haines, J.L
Kang, J.H
Kraft, P
Lee, R.K
Lichter, P.R
Liu, Y
Moroi, S.E
Pericak-Vance, M.A
Realini, A
Richards, J.E
Schuman, J.S
Scott, W.K
Singh, K
Sit, A.J
Vollrath, D
Wollstein, G
Zack, D.J
Zhang, K
Barroso, I
Blackwell, J.M
Bramon, E
Brown, M.A
Casas, J.P
Corvin, A
Deloukas, P
Duncanson, A
Jankowski, J
Markus, H.S
Mathew, C.G
Palmer, C.N.A
Plomin, R
Rautanen, A
Sawcer, S.J
Trembath, R.C
Viswanathan, A.C
Wood, N.W
Spencer, C.C.A
Band, G
Bellenguez, C
Freeman, C
Hellenthal, G
Giannoulatou, E
Pirinen, M
Pearson, R
Strange, A
Su, Z
Vukcevic, D
Donnelly, P
Langford, C
Hunt, S.E
Edkins, S
Gwilliam, R
Blackburn, H
Bumpstead, S.J
Dronov, S
Gillman, M
Gray, E
Hammond, N
Jayakumar, A
McCann, O.T
Liddle, J
Potter, S.C
Ravindrarajah, R
Ricketts, M
Waller, M
Weston, P
Widaa, S
Whittaker, P
Spector, T.D
Mirshahi, A
Saw, S.-M 
Vingerling, J.R
Teo, Y.-Y 
Wolfs, R.C.W
Lemij, H.G
Tai, E.-S 
Jansonius, N.M
Jonas, J.B
Cheng, C.-Y 
Aung, T 
Klaver, C.C.W
Craig, J.E
MacGregor, S
MacKey, D.A
Lotery, A.J
Stefansson, K
Bergen, A.A.B
Young, T.L
Wiggs, J.L
Pfeiffer, N
Wong, T.-Y 
Pasquale, L.R
Hewitt, A.W
Van Duijn, C.M
Hammond, C.J
Blue Mountains Eye Study-GWAS groupw
Wellcome Trust Case Control Consortium 2 (WTCCC2)
Data and Analysis Group
DNA, Genotyping, Data QC and Informatics Group
Publications Committee
Keywords: eye disease
genetic marker
nervous system
new record
ancestry group
case control study
gene identification
gene locus
genetic association
genetic risk
genetic variability
meta analysis
nervous system parameters
open angle glaucoma
optic disk
risk assessment
vertical cup disc ratio
Asian continental ancestry group
gene expression profiling
gene frequency
optic nerve
single nucleotide polymorphism
Asian Continental Ancestry Group
Case-Control Studies
European Continental Ancestry Group
Gene Expression Profiling
Gene Frequency
Genome-Wide Association Study
Optic Disk
Optic Nerve
Polymorphism, Single Nucleotide
Issue Date: 2014
Publisher: Nature Research
Citation: Springelkamp, H, Höhn, R, Mishra, A, Hysi, P.G, Khor, C.-C, Loomis, S.J, Bailey, J.N.C, Gibson, J, Thorleifsson, G, Janssen, S.F, Luo, X, Ramdas, W.D, Vithana, E, Nongpiur, M.E, Montgomery, G.W, Xu, L, Mountain, J.E, Gharahkhani, P, Lu, Y, Amin, N, Karssen, L.C, Sim, K.-S, Van Leeuwen, E.M, Iglesias, A.I, Verhoeven, V.J.M, Hauser, M.A, Loon, S.-C, Despriet, D.D.G, Nag, A, Venturini, C, Sanfilippo, P.G, Schillert, A, Kang, J.H, Landers, J, Jonasson, F, Cree, A.J, Van Koolwijk, L.M.E, Rivadeneira, F, Souzeau, E, Jonsson, V, Menon, G, Mitchell, P, Wang, J.J, Rochtchina, E, Attia, J, Scott, R, Holliday, E.G, Baird, P.N, Xie, J, Inouye, M, Viswanathan, A, Sim, X, Weinreb, R.N, De Jong, P.T.V.M, Oostra, B.A, Uitterlinden, A.G, Hofman, A, Ennis, S, Thorsteinsdottir, U, Burdon, K.P, Allingham, R.R, Brilliant, M.H, Budenz, D.L, Christen, W.G, Fingert, J, Friedman, D.S, Gaasterland, D, Gaasterland, T, Haines, J.L, Kang, J.H, Kraft, P, Lee, R.K, Lichter, P.R, Liu, Y, Moroi, S.E, Pericak-Vance, M.A, Realini, A, Richards, J.E, Schuman, J.S, Scott, W.K, Singh, K, Sit, A.J, Vollrath, D, Wollstein, G, Zack, D.J, Zhang, K, Barroso, I, Blackwell, J.M, Bramon, E, Brown, M.A, Casas, J.P, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, H.S, Mathew, C.G, Palmer, C.N.A, Plomin, R, Rautanen, A, Sawcer, S.J, Trembath, R.C, Viswanathan, A.C, Wood, N.W, Spencer, C.C.A, Band, G, Bellenguez, C, Freeman, C, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Su, Z, Vukcevic, D, Donnelly, P, Langford, C, Hunt, S.E, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, S.J, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, O.T, Liddle, J, Potter, S.C, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Spector, T.D, Mirshahi, A, Saw, S.-M, Vingerling, J.R, Teo, Y.-Y, Wolfs, R.C.W, Lemij, H.G, Tai, E.-S, Jansonius, N.M, Jonas, J.B, Cheng, C.-Y, Aung, T, Klaver, C.C.W, Craig, J.E, MacGregor, S, MacKey, D.A, Lotery, A.J, Stefansson, K, Bergen, A.A.B, Young, T.L, Wiggs, J.L, Pfeiffer, N, Wong, T.-Y, Pasquale, L.R, Hewitt, A.W, Van Duijn, C.M, Hammond, C.J, Blue Mountains Eye Study-GWAS groupw, NEIGHBORHOOD Consortiumz, Wellcome Trust Case Control Consortium 2 (WTCCC2), Data and Analysis Group, DNA, Genotyping, Data QC and Informatics Group, Publications Committee (2014). Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nature Communications 5 : 4883. ScholarBank@NUS Repository.
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. © 2014 Macmillan Publishers Limited. All rights reserved.
Source Title: Nature Communications
ISSN: 20411723
DOI: 10.1038/ncomms5883
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