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dc.titleMeta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
dc.contributor.authorSpringelkamp, H
dc.contributor.authorHöhn, R
dc.contributor.authorMishra, A
dc.contributor.authorHysi, P.G
dc.contributor.authorKhor, C.-C
dc.contributor.authorLoomis, S.J
dc.contributor.authorBailey, J.N.C
dc.contributor.authorGibson, J
dc.contributor.authorThorleifsson, G
dc.contributor.authorJanssen, S.F
dc.contributor.authorLuo, X
dc.contributor.authorRamdas, W.D
dc.contributor.authorVithana, E
dc.contributor.authorNongpiur, M.E
dc.contributor.authorMontgomery, G.W
dc.contributor.authorXu, L
dc.contributor.authorMountain, J.E
dc.contributor.authorGharahkhani, P
dc.contributor.authorLu, Y
dc.contributor.authorAmin, N
dc.contributor.authorKarssen, L.C
dc.contributor.authorSim, K.-S
dc.contributor.authorVan Leeuwen, E.M
dc.contributor.authorIglesias, A.I
dc.contributor.authorVerhoeven, V.J.M
dc.contributor.authorHauser, M.A
dc.contributor.authorLoon, S.-C
dc.contributor.authorDespriet, D.D.G
dc.contributor.authorNag, A
dc.contributor.authorVenturini, C
dc.contributor.authorSanfilippo, P.G
dc.contributor.authorSchillert, A
dc.contributor.authorKang, J.H
dc.contributor.authorLanders, J
dc.contributor.authorJonasson, F
dc.contributor.authorCree, A.J
dc.contributor.authorVan Koolwijk, L.M.E
dc.contributor.authorRivadeneira, F
dc.contributor.authorSouzeau, E
dc.contributor.authorJonsson, V
dc.contributor.authorMenon, G
dc.contributor.authorMitchell, P
dc.contributor.authorWang, J.J
dc.contributor.authorRochtchina, E
dc.contributor.authorAttia, J
dc.contributor.authorScott, R
dc.contributor.authorHolliday, E.G
dc.contributor.authorBaird, P.N
dc.contributor.authorXie, J
dc.contributor.authorInouye, M
dc.contributor.authorViswanathan, A
dc.contributor.authorSim, X
dc.contributor.authorWeinreb, R.N
dc.contributor.authorDe Jong, P.T.V.M
dc.contributor.authorOostra, B.A
dc.contributor.authorUitterlinden, A.G
dc.contributor.authorHofman, A
dc.contributor.authorEnnis, S
dc.contributor.authorThorsteinsdottir, U
dc.contributor.authorBurdon, K.P
dc.contributor.authorAllingham, R.R
dc.contributor.authorBrilliant, M.H
dc.contributor.authorBudenz, D.L
dc.contributor.authorChristen, W.G
dc.contributor.authorFingert, J
dc.contributor.authorFriedman, D.S
dc.contributor.authorGaasterland, D
dc.contributor.authorGaasterland, T
dc.contributor.authorHaines, J.L
dc.contributor.authorKang, J.H
dc.contributor.authorKraft, P
dc.contributor.authorLee, R.K
dc.contributor.authorLichter, P.R
dc.contributor.authorLiu, Y
dc.contributor.authorMoroi, S.E
dc.contributor.authorPericak-Vance, M.A
dc.contributor.authorRealini, A
dc.contributor.authorRichards, J.E
dc.contributor.authorSchuman, J.S
dc.contributor.authorScott, W.K
dc.contributor.authorSingh, K
dc.contributor.authorSit, A.J
dc.contributor.authorVollrath, D
dc.contributor.authorWollstein, G
dc.contributor.authorZack, D.J
dc.contributor.authorZhang, K
dc.contributor.authorBarroso, I
dc.contributor.authorBlackwell, J.M
dc.contributor.authorBramon, E
dc.contributor.authorBrown, M.A
dc.contributor.authorCasas, J.P
dc.contributor.authorCorvin, A
dc.contributor.authorDeloukas, P
dc.contributor.authorDuncanson, A
dc.contributor.authorJankowski, J
dc.contributor.authorMarkus, H.S
dc.contributor.authorMathew, C.G
dc.contributor.authorPalmer, C.N.A
dc.contributor.authorPlomin, R
dc.contributor.authorRautanen, A
dc.contributor.authorSawcer, S.J
dc.contributor.authorTrembath, R.C
dc.contributor.authorViswanathan, A.C
dc.contributor.authorWood, N.W
dc.contributor.authorSpencer, C.C.A
dc.contributor.authorBand, G
dc.contributor.authorBellenguez, C
dc.contributor.authorFreeman, C
dc.contributor.authorHellenthal, G
dc.contributor.authorGiannoulatou, E
dc.contributor.authorPirinen, M
dc.contributor.authorPearson, R
dc.contributor.authorStrange, A
dc.contributor.authorSu, Z
dc.contributor.authorVukcevic, D
dc.contributor.authorDonnelly, P
dc.contributor.authorLangford, C
dc.contributor.authorHunt, S.E
dc.contributor.authorEdkins, S
dc.contributor.authorGwilliam, R
dc.contributor.authorBlackburn, H
dc.contributor.authorBumpstead, S.J
dc.contributor.authorDronov, S
dc.contributor.authorGillman, M
dc.contributor.authorGray, E
dc.contributor.authorHammond, N
dc.contributor.authorJayakumar, A
dc.contributor.authorMcCann, O.T
dc.contributor.authorLiddle, J
dc.contributor.authorPotter, S.C
dc.contributor.authorRavindrarajah, R
dc.contributor.authorRicketts, M
dc.contributor.authorWaller, M
dc.contributor.authorWeston, P
dc.contributor.authorWidaa, S
dc.contributor.authorWhittaker, P
dc.contributor.authorSpector, T.D
dc.contributor.authorMirshahi, A
dc.contributor.authorSaw, S.-M
dc.contributor.authorVingerling, J.R
dc.contributor.authorTeo, Y.-Y
dc.contributor.authorWolfs, R.C.W
dc.contributor.authorLemij, H.G
dc.contributor.authorTai, E.-S
dc.contributor.authorJansonius, N.M
dc.contributor.authorJonas, J.B
dc.contributor.authorCheng, C.-Y
dc.contributor.authorAung, T
dc.contributor.authorKlaver, C.C.W
dc.contributor.authorCraig, J.E
dc.contributor.authorMacGregor, S
dc.contributor.authorMacKey, D.A
dc.contributor.authorLotery, A.J
dc.contributor.authorStefansson, K
dc.contributor.authorBergen, A.A.B
dc.contributor.authorYoung, T.L
dc.contributor.authorWiggs, J.L
dc.contributor.authorPfeiffer, N
dc.contributor.authorWong, T.-Y
dc.contributor.authorPasquale, L.R
dc.contributor.authorHewitt, A.W
dc.contributor.authorVan Duijn, C.M
dc.contributor.authorHammond, C.J
dc.contributor.authorBlue Mountains Eye Study-GWAS groupw
dc.contributor.authorNEIGHBORHOOD Consortiumz
dc.contributor.authorWellcome Trust Case Control Consortium 2 (WTCCC2)
dc.contributor.authorData and Analysis Group
dc.contributor.authorDNA, Genotyping, Data QC and Informatics Group
dc.contributor.authorPublications Committee
dc.identifier.citationSpringelkamp, 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.
dc.description.abstractGlaucoma 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.
dc.publisherNature Research
dc.sourceUnpaywall 20200831
dc.subjecteye disease
dc.subjectgenetic marker
dc.subjectnervous system
dc.subjectnew record
dc.subjectancestry group
dc.subjectcase control study
dc.subjectgene identification
dc.subjectgene locus
dc.subjectgenetic association
dc.subjectgenetic risk
dc.subjectgenetic variability
dc.subjectmeta analysis
dc.subjectnervous system parameters
dc.subjectopen angle glaucoma
dc.subjectoptic disk
dc.subjectrisk assessment
dc.subjectvertical cup disc ratio
dc.subjectAsian continental ancestry group
dc.subjectgene expression profiling
dc.subjectgene frequency
dc.subjectoptic nerve
dc.subjectsingle nucleotide polymorphism
dc.subjectAsian Continental Ancestry Group
dc.subjectCase-Control Studies
dc.subjectEuropean Continental Ancestry Group
dc.subjectGene Expression Profiling
dc.subjectGene Frequency
dc.subjectGenome-Wide Association Study
dc.subjectOptic Disk
dc.subjectOptic Nerve
dc.subjectPolymorphism, Single Nucleotide
dc.contributor.departmentDEPT OF BIOCHEMISTRY
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.contributor.departmentDEPT OF OPHTHALMOLOGY
dc.contributor.departmentLIFE SCIENCES INSTITUTE
dc.contributor.departmentSAW SWEE HOCK SCHOOL OF PUBLIC HEALTH
dc.contributor.departmentDEPT OF MEDICINE
dc.description.sourcetitleNature Communications
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