Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

H. Springelkamp; A. Mishra; P.G. Hysi; P. Gharahkhani; R. Höhn; C.C. Khor; J.N. Cooke Bailey; X. Luo; W.D. Ramdas; E.N.I. Vithana; V. Koh; S. Yazar; L. Xu; Hannah Forward; L.S. Kearns; N. Amin; A.I. Iglesias; K. Sim; E.M. Van Leeuwen; A. Demirkan; S.J. Van Der Lee; S.C. Loon; F.F. Rivadeneira; A. Nag; Paul Sanfilippo; A. Schillert; P.T.V.M. De Jong; B.A. Oostra; A.G. Uitterlinden; A.F. Hofman; T. Zhou; K.P. Burdon; T.D. Spector; K.J. Lackner; S. Saw; J.R. Vingerling; Y.Y.I. Teo; L.R. Pasquale; R.C.W. Wolfs; H.G. Lemij; E.S. Tai; J.B. Jonas; C. Cheng; T. Aung; N.M. Jansonius; C.C.W. Klaver; J.E. Craig; T.L. Young; J.L. Haines; S. Macgregor; David Mackey; N. Pfeiffer; T. Wong; J.L. Wiggs; A.W. Hewitt; C.M. Van Duijn; C.J. Hammond; R.R. Allingham; M.H. Brilliant; D.L. Budenz; J.N.C. Bailey; W.G. Christen; J.H. Fingert; D.E. Gaasterland; T.M. Gaasterland; M.A. Hauser; J. Kang; P.L. Kraft; R.K. Lee; P.A. Lichter; Y. Liu; S.J. Loomis; S.E. Moroi; M.A. Pericak-Vance; A.T. Realini; J.E. Richards; J.S. Schuman; W.K. Scott; K. Singh; A.J. Sit; D. Vollrath; R.N. Weinréb; G. Wollstein; D.J. Zack; K. Zhang

doi:10.1002/gepi.21886

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

H. Springelkamp, A. Mishra, P.G. Hysi, P. Gharahkhani, R. Höhn, C.C. Khor, J.N. Cooke Bailey, X. Luo, W.D. Ramdas, E.N.I. Vithana, V. Koh, S. Yazar, L. Xu, Hannah Forward, L.S. Kearns, N. Amin, A.I. Iglesias, K. Sim, E.M. Van Leeuwen, A. DemirkanS.J. Van Der Lee, S.C. Loon, F.F. Rivadeneira, A. Nag, Paul Sanfilippo, A. Schillert, P.T.V.M. De Jong, B.A. Oostra, A.G. Uitterlinden, A.F. Hofman, T. Zhou, K.P. Burdon, T.D. Spector, K.J. Lackner, S. Saw, J.R. Vingerling, Y.Y.I. Teo, L.R. Pasquale, R.C.W. Wolfs, H.G. Lemij, E.S. Tai, J.B. Jonas, C. Cheng, T. Aung, N.M. Jansonius, C.C.W. Klaver, J.E. Craig, T.L. Young, J.L. Haines, S. Macgregor, David Mackey, N. Pfeiffer, T. Wong, J.L. Wiggs, A.W. Hewitt, C.M. Van Duijn, C.J. Hammond, R.R. Allingham, M.H. Brilliant, D.L. Budenz, J.N.C. Bailey, W.G. Christen, J.H. Fingert, D.E. Gaasterland, T.M. Gaasterland, M.A. Hauser, J. Kang, P.L. Kraft, R.K. Lee, P.A. Lichter, Y. Liu, S.J. Loomis, S.E. Moroi, M.A. Pericak-Vance, A.T. Realini, J.E. Richards, J.S. Schuman, W.K. Scott, K. Singh, A.J. Sit, D. Vollrath, R.N. Weinréb, G. Wollstein, D.J. Zack, K. Zhang

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Abstract

© 2015 Wiley Periodicals, Inc. Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.

Original language	English
Pages (from-to)	207-216
Journal	Genetic Epidemiology
Volume	39
Issue number	3
DOIs	https://doi.org/10.1002/gepi.21886
Publication status	Published - 2015

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Springelkamp, H., Mishra, A., Hysi, P. G., Gharahkhani, P., Höhn, R., Khor, C. C., Cooke Bailey, J. N., Luo, X., Ramdas, W. D., Vithana, E. N. I., Koh, V., Yazar, S., Xu, L., Forward, H., Kearns, L. S., Amin, N., Iglesias, A. I., Sim, K., Van Leeuwen, E. M., ... Zhang, K. (2015). Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. Genetic Epidemiology, 39(3), 207-216. https://doi.org/10.1002/gepi.21886

@article{1740543bd2be47158945c5f0bd71ad5a,

title = "Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology",

abstract = "{\textcopyright} 2015 Wiley Periodicals, Inc. Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.",

author = "H. Springelkamp and A. Mishra and P.G. Hysi and P. Gharahkhani and R. H{\"o}hn and C.C. Khor and {Cooke Bailey}, J.N. and X. Luo and W.D. Ramdas and E.N.I. Vithana and V. Koh and S. Yazar and L. Xu and Hannah Forward and L.S. Kearns and N. Amin and A.I. Iglesias and K. Sim and {Van Leeuwen}, E.M. and A. Demirkan and {Van Der Lee}, S.J. and S.C. Loon and F.F. Rivadeneira and A. Nag and Paul Sanfilippo and A. Schillert and {De Jong}, P.T.V.M. and B.A. Oostra and A.G. Uitterlinden and A.F. Hofman and T. Zhou and K.P. Burdon and T.D. Spector and K.J. Lackner and S. Saw and J.R. Vingerling and Y.Y.I. Teo and L.R. Pasquale and R.C.W. Wolfs and H.G. Lemij and E.S. Tai and J.B. Jonas and C. Cheng and T. Aung and N.M. Jansonius and C.C.W. Klaver and J.E. Craig and T.L. Young and J.L. Haines and S. Macgregor and David Mackey and N. Pfeiffer and T. Wong and J.L. Wiggs and A.W. Hewitt and {Van Duijn}, C.M. and C.J. Hammond and R.R. Allingham and M.H. Brilliant and D.L. Budenz and J.N.C. Bailey and W.G. Christen and J.H. Fingert and D.E. Gaasterland and T.M. Gaasterland and M.A. Hauser and J. Kang and P.L. Kraft and R.K. Lee and P.A. Lichter and Y. Liu and S.J. Loomis and S.E. Moroi and M.A. Pericak-Vance and A.T. Realini and J.E. Richards and J.S. Schuman and W.K. Scott and K. Singh and A.J. Sit and D. Vollrath and R.N. Weinr{\'e}b and G. Wollstein and D.J. Zack and K. Zhang",

year = "2015",

doi = "10.1002/gepi.21886",

language = "English",

volume = "39",

pages = "207--216",

journal = "Genetic Epidemiology",

issn = "0741-0395",

publisher = "Wiley-Blackwell",

number = "3",

}

Springelkamp, H, Mishra, A, Hysi, PG, Gharahkhani, P, Höhn, R, Khor, CC, Cooke Bailey, JN, Luo, X, Ramdas, WD, Vithana, ENI, Koh, V, Yazar, S, Xu, L, Forward, H, Kearns, LS, Amin, N, Iglesias, AI, Sim, K, Van Leeuwen, EM, Demirkan, A, Van Der Lee, SJ, Loon, SC, Rivadeneira, FF, Nag, A, Sanfilippo, P, Schillert, A, De Jong, PTVM, Oostra, BA, Uitterlinden, AG, Hofman, AF, Zhou, T, Burdon, KP, Spector, TD, Lackner, KJ, Saw, S, Vingerling, JR, Teo, YYI, Pasquale, LR, Wolfs, RCW, Lemij, HG, Tai, ES, Jonas, JB, Cheng, C, Aung, T, Jansonius, NM, Klaver, CCW, Craig, JE, Young, TL, Haines, JL, Macgregor, S, Mackey, D, Pfeiffer, N, Wong, T, Wiggs, JL, Hewitt, AW, Van Duijn, CM, Hammond, CJ, Allingham, RR, Brilliant, MH, Budenz, DL, Bailey, JNC, Christen, WG, Fingert, JH, Gaasterland, DE, Gaasterland, TM, Hauser, MA, Kang, J, Kraft, PL, Lee, RK, Lichter, PA, Liu, Y, Loomis, SJ, Moroi, SE, Pericak-Vance, MA, Realini, AT, Richards, JE, Schuman, JS, Scott, WK, Singh, K, Sit, AJ, Vollrath, D, Weinréb, RN, Wollstein, G, Zack, DJ & Zhang, K 2015, 'Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology', Genetic Epidemiology, vol. 39, no. 3, pp. 207-216. https://doi.org/10.1002/gepi.21886

TY - JOUR

T1 - Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

AU - Springelkamp, H.

AU - Mishra, A.

AU - Hysi, P.G.

AU - Gharahkhani, P.

AU - Höhn, R.

AU - Khor, C.C.

AU - Cooke Bailey, J.N.

AU - Luo, X.

AU - Ramdas, W.D.

AU - Vithana, E.N.I.

AU - Koh, V.

AU - Yazar, S.

AU - Xu, L.

AU - Forward, Hannah

AU - Kearns, L.S.

AU - Amin, N.

AU - Iglesias, A.I.

AU - Sim, K.

AU - Van Leeuwen, E.M.

AU - Demirkan, A.

AU - Van Der Lee, S.J.

AU - Loon, S.C.

AU - Rivadeneira, F.F.

AU - Nag, A.

AU - Sanfilippo, Paul

AU - Schillert, A.

AU - De Jong, P.T.V.M.

AU - Oostra, B.A.

AU - Uitterlinden, A.G.

AU - Hofman, A.F.

AU - Zhou, T.

AU - Burdon, K.P.

AU - Spector, T.D.

AU - Lackner, K.J.

AU - Saw, S.

AU - Vingerling, J.R.

AU - Teo, Y.Y.I.

AU - Pasquale, L.R.

AU - Wolfs, R.C.W.

AU - Lemij, H.G.

AU - Tai, E.S.

AU - Jonas, J.B.

AU - Cheng, C.

AU - Aung, T.

AU - Jansonius, N.M.

AU - Klaver, C.C.W.

AU - Craig, J.E.

AU - Young, T.L.

AU - Haines, J.L.

AU - Macgregor, S.

AU - Mackey, David

AU - Pfeiffer, N.

AU - Wong, T.

AU - Wiggs, J.L.

AU - Hewitt, A.W.

AU - Van Duijn, C.M.

AU - Hammond, C.J.

AU - Allingham, R.R.

AU - Brilliant, M.H.

AU - Budenz, D.L.

AU - Bailey, J.N.C.

AU - Christen, W.G.

AU - Fingert, J.H.

AU - Gaasterland, D.E.

AU - Gaasterland, T.M.

AU - Hauser, M.A.

AU - Kang, J.

AU - Kraft, P.L.

AU - Lee, R.K.

AU - Lichter, P.A.

AU - Liu, Y.

AU - Loomis, S.J.

AU - Moroi, S.E.

AU - Pericak-Vance, M.A.

AU - Realini, A.T.

AU - Richards, J.E.

AU - Schuman, J.S.

AU - Scott, W.K.

AU - Singh, K.

AU - Sit, A.J.

AU - Vollrath, D.

AU - Weinréb, R.N.

AU - Wollstein, G.

AU - Zack, D.J.

AU - Zhang, K.

PY - 2015

Y1 - 2015

N2 - © 2015 Wiley Periodicals, Inc. Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.

AB - © 2015 Wiley Periodicals, Inc. Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.

U2 - 10.1002/gepi.21886

DO - 10.1002/gepi.21886

M3 - Article

SN - 0741-0395

VL - 39

SP - 207

EP - 216

JO - Genetic Epidemiology

JF - Genetic Epidemiology

IS - 3

ER -

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

Abstract

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