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

Please use this identifier to cite or link to this item: https://doi.org/10.1038/ncomms5883

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 NEIGHBORHOOD Consortiumz 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 genome meta-analysis nervous system new record ancestry group Article Asian case control study European gene identification gene locus genetic association genetic risk genetic variability human meta analysis nervous system parameters open angle glaucoma optic disk risk assessment study vertical cup disc ratio Asian continental ancestry group Caucasian ethnology gene expression profiling gene frequency genetics genotype glaucoma optic nerve pathology pathophysiology phenotype single nucleotide polymorphism Asian Continental Ancestry Group Case-Control Studies European Continental Ancestry Group Gene Expression Profiling Gene Frequency Genome-Wide Association Study Genotype Glaucoma Humans Optic Disk Optic Nerve Phenotype 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. https://doi.org/10.1038/ncomms5883
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
URI:	https://scholarbank.nus.edu.sg/handle/10635/174995
ISSN:	20411723
DOI:	10.1038/ncomms5883
Appears in Collections:	Elements Staff Publications

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