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

H. Springelkamp; R. Höhn; A. Mishra; P.G. Hysi; C.C. Khor; S.J. Loomis; J.N.C. Bailey; J. Gibson; G. Thorleifsson; S.F. Janssen; X. Luo; W.D. Ramdas; E.N.I. Vithana; M.E. Nongpiur; G.W. Montgomery; L. Xu-; J.E. Mountain; P. Gharahkhani; Y. Lü; N. Amin; L.C. Karssen; K. Sim; E.M. Van Leeuwen; A.I. Iglesias; V.J.M. Verhoeven; M.A. Hauser; S.C. Loon; D.D.G. Despriet; A. Nag; C. Venturini; P.G. Sanfilippo; A. Schillert; J.H. Kang; J. Landers; F. Jónasson; A.J. Cree; L.M.E. Van Koolwijk; F.F. Rivadeneira; E. Souzeau; V. Jónsson; G. Menon; P.G. Mitchell; J. Wang; E. Rochtchina; J. Attia; R.J. Scott; E.G. Holliday; P.N. Baird; J. Xie; M. Inouye; A.C. Viswanathan; X. Sim; R.N. Weinréb; P.T.V.M. De Jong; B.A. Oostra; A.G. Uitterlinden; A.F. Hofman; S. Ennis; U. Thorsteinsdóttir; K.P. Burdon; R.R. Allingham; M.H. Brilliant; D.L. Budenz; W.G. Christen; J.H. Fingert; D.S. Friedman; D.E. Gaasterland; T.M. Gaasterland; J.L. Haines; J. Kang; P.L. Kraft; R.K. Lee; P.R. Lichter; Y. Liu; S. Moroi; M.A.O. Peričak-Vance; A.T. Realini; J.E. Richards; J.S. Schuman; W.K. Scott; K. Singh; A.J. Sit; D. Vollrath; G. Wollstein; D.J. Zack; K. Zhang; I. Barroso; J.M. Blackwell; E. Bramon; M.A. Brown; J.P. Casas; A. Corvin; P. Deloukas; A. Duncanson; J. Jankowski; H.S. Markus; C.G. Mathew; C.N.A. Palmer; R.J. Plomin; A. Rautanen; S.J. Sawcer; R.C. Trembath; N.W. Wood; C.C.A. Spencer; G. Band; C. Bellenguez; C.O. Freeman; G. Hellenthal; E. Giannoulatou; M. Pirinen; R. Pearson; A. Strange; Z. Su; D. Vukcevic; P. Donnelly; C.F. Langford; S.E. Hunt; S.J. Edkins; R.G. Gwilliam; H. Blackburn; S.J. Bumpstead; S. Dronov; M.W. Gillman; E.H. Gray; N. Hammond; A. Jayakumar; O.T. Mccann; J. Liddle; S.C. Potter; R. Ravindrarajah; M.D. Ricketts; M.J. Waller; P.J. Weston; S. Widaa; P. Whittaker; T.D. Spector; A. Mirshahi; S. Saw; J.R. Vingerling; Y. Teo; R.C.W. Wolfs; H.G. Lemij; E.S. Tai; N.M. Jansonius; J.B. Jonas; C. Cheng; T. Aung; C.C.W. Klaver; J.E. Craig; S. Macgregor; David Mackey; A.J. Lotery; K. Stefánsson; A.A.B. Bergen; T.L. Young; J.L. Wiggs; N. Pfeiffer; T. Wong; L.R. Pasquale; A.W. Hewitt; C.M. Van Duijn; C.J. Hammond

doi:10.1038/ncomms5883

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

H. Springelkamp, R. Höhn, A. Mishra, P.G. Hysi, C.C. Khor, S.J. Loomis, J.N.C. Bailey, J. Gibson, G. Thorleifsson, S.F. Janssen, X. Luo, W.D. Ramdas, E.N.I. Vithana, M.E. Nongpiur, G.W. Montgomery, L. Xu-, J.E. Mountain, P. Gharahkhani, Y. Lü, N. AminL.C. Karssen, K. Sim, E.M. Van Leeuwen, A.I. Iglesias, V.J.M. Verhoeven, M.A. Hauser, S.C. Loon, D.D.G. Despriet, A. Nag, C. Venturini, P.G. Sanfilippo, A. Schillert, J.H. Kang, J. Landers, F. Jónasson, A.J. Cree, L.M.E. Van Koolwijk, F.F. Rivadeneira, E. Souzeau, V. Jónsson, G. Menon, P.G. Mitchell, J. Wang, E. Rochtchina, J. Attia, R.J. Scott, E.G. Holliday, P.N. Baird, J. Xie, M. Inouye, A.C. Viswanathan, X. Sim, R.N. Weinréb, P.T.V.M. De Jong, B.A. Oostra, A.G. Uitterlinden, A.F. Hofman, S. Ennis, U. Thorsteinsdóttir, K.P. Burdon, R.R. Allingham, M.H. Brilliant, D.L. Budenz, W.G. Christen, J.H. Fingert, D.S. Friedman, D.E. Gaasterland, T.M. Gaasterland, J.L. Haines, J. Kang, P.L. Kraft, R.K. Lee, P.R. Lichter, Y. Liu, S. Moroi, M.A.O. Peričak-Vance, A.T. Realini, J.E. Richards, J.S. Schuman, W.K. Scott, K. Singh, A.J. Sit, D. Vollrath, G. Wollstein, D.J. Zack, K. Zhang, I. Barroso, J.M. Blackwell, E. Bramon, M.A. Brown, J.P. Casas, A. Corvin, P. Deloukas, A. Duncanson, J. Jankowski, H.S. Markus, C.G. Mathew, C.N.A. Palmer, R.J. Plomin, A. Rautanen, S.J. Sawcer, R.C. Trembath, N.W. Wood, C.C.A. Spencer, G. Band, C. Bellenguez, C.O. Freeman, G. Hellenthal, E. Giannoulatou, M. Pirinen, R. Pearson, A. Strange, Z. Su, D. Vukcevic, P. Donnelly, C.F. Langford, S.E. Hunt, S.J. Edkins, R.G. Gwilliam, H. Blackburn, S.J. Bumpstead, S. Dronov, M.W. Gillman, E.H. Gray, N. Hammond, A. Jayakumar, O.T. Mccann, J. Liddle, S.C. Potter, R. Ravindrarajah, M.D. Ricketts, M.J. Waller, P.J. Weston, S. Widaa, P. Whittaker, T.D. Spector, A. Mirshahi, S. Saw, J.R. Vingerling, Y. Teo, R.C.W. Wolfs, H.G. Lemij, E.S. Tai, N.M. Jansonius, J.B. Jonas, C. Cheng, T. Aung, C.C.W. Klaver, J.E. Craig, S. Macgregor, David Mackey, A.J. Lotery, K. Stefánsson, A.A.B. Bergen, T.L. Young, J.L. Wiggs, N. Pfeiffer, T. Wong, L.R. Pasquale, A.W. Hewitt, C.M. Van Duijn, C.J. Hammond

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Abstract

© 2014 Macmillan Publishers Limited. All rights reserved. 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.

Original language	English
Pages (from-to)	1-7
Journal	Nature Communications
Volume	5
DOIs	https://doi.org/10.1038/ncomms5883
Publication status	Published - 2014

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10.1038/ncomms5883

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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. N. I., Nongpiur, M. E., Montgomery, G. W., Xu-, L., Mountain, J. E., Gharahkhani, P., Lü, Y., ... Hammond, C. J. (2014). Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nature Communications, 5, 1-7. https://doi.org/10.1038/ncomms5883

@article{7785a296ba3740dfb498ae49a0b46584,

title = "Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process",

abstract = "{\textcopyright} 2014 Macmillan Publishers Limited. All rights reserved. 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.",

author = "H. Springelkamp and R. H{\"o}hn and A. Mishra and P.G. Hysi and C.C. Khor and S.J. Loomis and J.N.C. Bailey and J. Gibson and G. Thorleifsson and S.F. Janssen and X. Luo and W.D. Ramdas and E.N.I. Vithana and M.E. Nongpiur and G.W. Montgomery and L. Xu- and J.E. Mountain and P. Gharahkhani and Y. L{\"u} and N. Amin and L.C. Karssen and K. Sim and {Van Leeuwen}, E.M. and A.I. Iglesias and V.J.M. Verhoeven and M.A. Hauser and S.C. Loon and D.D.G. Despriet and A. Nag and C. Venturini and P.G. Sanfilippo and A. Schillert and J.H. Kang and J. Landers and F. J{\'o}nasson and A.J. Cree and {Van Koolwijk}, L.M.E. and F.F. Rivadeneira and E. Souzeau and V. J{\'o}nsson and G. Menon and P.G. Mitchell and J. Wang and E. Rochtchina and J. Attia and R.J. Scott and E.G. Holliday and P.N. Baird and J. Xie and M. Inouye and A.C. Viswanathan and X. Sim and R.N. Weinr{\'e}b and {De Jong}, P.T.V.M. and B.A. Oostra and A.G. Uitterlinden and A.F. Hofman and S. Ennis and U. Thorsteinsd{\'o}ttir and K.P. Burdon and R.R. Allingham and M.H. Brilliant and D.L. Budenz and W.G. Christen and J.H. Fingert and D.S. Friedman and D.E. Gaasterland and T.M. Gaasterland and J.L. Haines and J. Kang and P.L. Kraft and R.K. Lee and P.R. Lichter and Y. Liu and S. Moroi and M.A.O. Peri{\v c}ak-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 G. Wollstein and D.J. Zack and K. Zhang and I. Barroso and J.M. Blackwell and E. Bramon and M.A. Brown and J.P. Casas and A. Corvin and P. Deloukas and A. Duncanson and J. Jankowski and H.S. Markus and C.G. Mathew and C.N.A. Palmer and R.J. Plomin and A. Rautanen and S.J. Sawcer and R.C. Trembath and N.W. Wood and C.C.A. Spencer and G. Band and C. Bellenguez and C.O. Freeman and G. Hellenthal and E. Giannoulatou and M. Pirinen and R. Pearson and A. Strange and Z. Su and D. Vukcevic and P. Donnelly and C.F. Langford and S.E. Hunt and S.J. Edkins and R.G. Gwilliam and H. Blackburn and S.J. Bumpstead and S. Dronov and M.W. Gillman and E.H. Gray and N. Hammond and A. Jayakumar and O.T. Mccann and J. Liddle and S.C. Potter and R. Ravindrarajah and M.D. Ricketts and M.J. Waller and P.J. Weston and S. Widaa and P. Whittaker and T.D. Spector and A. Mirshahi and S. Saw and J.R. Vingerling and Y. Teo and R.C.W. Wolfs and H.G. Lemij and E.S. Tai and N.M. Jansonius and J.B. Jonas and C. Cheng and T. Aung and C.C.W. Klaver and J.E. Craig and S. Macgregor and David Mackey and A.J. Lotery and K. Stef{\'a}nsson and A.A.B. Bergen and T.L. Young and J.L. Wiggs and N. Pfeiffer and T. Wong and L.R. Pasquale and A.W. Hewitt and {Van Duijn}, C.M. and C.J. Hammond",

year = "2014",

doi = "10.1038/ncomms5883",

language = "English",

volume = "5",

pages = "1--7",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Publishing Group - Macmillan Publishers",

}

Springelkamp, H, Höhn, R, Mishra, A, Hysi, PG, Khor, CC, Loomis, SJ, Bailey, JNC, Gibson, J, Thorleifsson, G, Janssen, SF, Luo, X, Ramdas, WD, Vithana, ENI, Nongpiur, ME, Montgomery, GW, Xu-, L, Mountain, JE, Gharahkhani, P, Lü, Y, Amin, N, Karssen, LC, Sim, K, Van Leeuwen, EM, Iglesias, AI, Verhoeven, VJM, Hauser, MA, Loon, SC, Despriet, DDG, Nag, A, Venturini, C, Sanfilippo, PG, Schillert, A, Kang, JH, Landers, J, Jónasson, F, Cree, AJ, Van Koolwijk, LME, Rivadeneira, FF, Souzeau, E, Jónsson, V, Menon, G, Mitchell, PG, Wang, J, Rochtchina, E, Attia, J, Scott, RJ, Holliday, EG, Baird, PN, Xie, J, Inouye, M, Viswanathan, AC, Sim, X, Weinréb, RN, De Jong, PTVM, Oostra, BA, Uitterlinden, AG, Hofman, AF, Ennis, S, Thorsteinsdóttir, U, Burdon, KP, Allingham, RR, Brilliant, MH, Budenz, DL, Christen, WG, Fingert, JH, Friedman, DS, Gaasterland, DE, Gaasterland, TM, Haines, JL, Kang, J, Kraft, PL, Lee, RK, Lichter, PR, Liu, Y, Moroi, S, Peričak-Vance, MAO, Realini, AT, Richards, JE, Schuman, JS, Scott, WK, Singh, K, Sit, AJ, Vollrath, D, Wollstein, G, Zack, DJ, Zhang, K, Barroso, I, Blackwell, JM, Bramon, E, Brown, MA, Casas, JP, Corvin, A, Deloukas, P, Duncanson, A, Jankowski, J, Markus, HS, Mathew, CG, Palmer, CNA, Plomin, RJ, Rautanen, A, Sawcer, SJ, Trembath, RC, Wood, NW, Spencer, CCA, Band, G, Bellenguez, C, Freeman, CO, Hellenthal, G, Giannoulatou, E, Pirinen, M, Pearson, R, Strange, A, Su, Z, Vukcevic, D, Donnelly, P, Langford, CF, Hunt, SE, Edkins, SJ, Gwilliam, RG, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, MW, Gray, EH, Hammond, N, Jayakumar, A, Mccann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, MD, Waller, MJ, Weston, PJ, Widaa, S, Whittaker, P, Spector, TD, Mirshahi, A, Saw, S, Vingerling, JR, Teo, Y, Wolfs, RCW, Lemij, HG, Tai, ES, Jansonius, NM, Jonas, JB, Cheng, C, Aung, T, Klaver, CCW, Craig, JE, Macgregor, S, Mackey, D, Lotery, AJ, Stefánsson, K, Bergen, AAB, Young, TL, Wiggs, JL, Pfeiffer, N, Wong, T, Pasquale, LR, Hewitt, AW, Van Duijn, CM & Hammond, CJ 2014, 'Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process', Nature Communications, vol. 5, pp. 1-7. https://doi.org/10.1038/ncomms5883

TY - JOUR

T1 - Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

AU - Springelkamp, H.

AU - Höhn, R.

AU - Mishra, A.

AU - Hysi, P.G.

AU - Khor, C.C.

AU - Loomis, S.J.

AU - Bailey, J.N.C.

AU - Gibson, J.

AU - Thorleifsson, G.

AU - Janssen, S.F.

AU - Luo, X.

AU - Ramdas, W.D.

AU - Vithana, E.N.I.

AU - Nongpiur, M.E.

AU - Montgomery, G.W.

AU - Xu-, L.

AU - Mountain, J.E.

AU - Gharahkhani, P.

AU - Lü, Y.

AU - Amin, N.

AU - Karssen, L.C.

AU - Sim, K.

AU - Van Leeuwen, E.M.

AU - Iglesias, A.I.

AU - Verhoeven, V.J.M.

AU - Hauser, M.A.

AU - Loon, S.C.

AU - Despriet, D.D.G.

AU - Nag, A.

AU - Venturini, C.

AU - Sanfilippo, P.G.

AU - Schillert, A.

AU - Kang, J.H.

AU - Landers, J.

AU - Jónasson, F.

AU - Cree, A.J.

AU - Van Koolwijk, L.M.E.

AU - Rivadeneira, F.F.

AU - Souzeau, E.

AU - Jónsson, V.

AU - Menon, G.

AU - Mitchell, P.G.

AU - Wang, J.

AU - Rochtchina, E.

AU - Attia, J.

AU - Scott, R.J.

AU - Holliday, E.G.

AU - Baird, P.N.

AU - Xie, J.

AU - Inouye, M.

AU - Viswanathan, A.C.

AU - Sim, X.

AU - Weinréb, R.N.

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

AU - Oostra, B.A.

AU - Uitterlinden, A.G.

AU - Hofman, A.F.

AU - Ennis, S.

AU - Thorsteinsdóttir, U.

AU - Burdon, K.P.

AU - Allingham, R.R.

AU - Brilliant, M.H.

AU - Budenz, D.L.

AU - Christen, W.G.

AU - Fingert, J.H.

AU - Friedman, D.S.

AU - Gaasterland, D.E.

AU - Gaasterland, T.M.

AU - Haines, J.L.

AU - Kang, J.

AU - Kraft, P.L.

AU - Lee, R.K.

AU - Lichter, P.R.

AU - Liu, Y.

AU - Moroi, S.

AU - Peričak-Vance, M.A.O.

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 - Wollstein, G.

AU - Zack, D.J.

AU - Zhang, K.

AU - Barroso, I.

AU - Blackwell, J.M.

AU - Bramon, E.

AU - Brown, M.A.

AU - Casas, J.P.

AU - Corvin, A.

AU - Deloukas, P.

AU - Duncanson, A.

AU - Jankowski, J.

AU - Markus, H.S.

AU - Mathew, C.G.

AU - Palmer, C.N.A.

AU - Plomin, R.J.

AU - Rautanen, A.

AU - Sawcer, S.J.

AU - Trembath, R.C.

AU - Wood, N.W.

AU - Spencer, C.C.A.

AU - Band, G.

AU - Bellenguez, C.

AU - Freeman, C.O.

AU - Hellenthal, G.

AU - Giannoulatou, E.

AU - Pirinen, M.

AU - Pearson, R.

AU - Strange, A.

AU - Su, Z.

AU - Vukcevic, D.

AU - Donnelly, P.

AU - Langford, C.F.

AU - Hunt, S.E.

AU - Edkins, S.J.

AU - Gwilliam, R.G.

AU - Blackburn, H.

AU - Bumpstead, S.J.

AU - Dronov, S.

AU - Gillman, M.W.

AU - Gray, E.H.

AU - Hammond, N.

AU - Jayakumar, A.

AU - Mccann, O.T.

AU - Liddle, J.

AU - Potter, S.C.

AU - Ravindrarajah, R.

AU - Ricketts, M.D.

AU - Waller, M.J.

AU - Weston, P.J.

AU - Widaa, S.

AU - Whittaker, P.

AU - Spector, T.D.

AU - Mirshahi, A.

AU - Saw, S.

AU - Vingerling, J.R.

AU - Teo, Y.

AU - Wolfs, R.C.W.

AU - Lemij, H.G.

AU - Tai, E.S.

AU - Jansonius, N.M.

AU - Jonas, J.B.

AU - Cheng, C.

AU - Aung, T.

AU - Klaver, C.C.W.

AU - Craig, J.E.

AU - Macgregor, S.

AU - Mackey, David

AU - Lotery, A.J.

AU - Stefánsson, K.

AU - Bergen, A.A.B.

AU - Young, T.L.

AU - Wiggs, J.L.

AU - Pfeiffer, N.

AU - Wong, T.

AU - Pasquale, L.R.

AU - Hewitt, A.W.

AU - Van Duijn, C.M.

AU - Hammond, C.J.

PY - 2014

Y1 - 2014

N2 - © 2014 Macmillan Publishers Limited. All rights reserved. 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.

AB - © 2014 Macmillan Publishers Limited. All rights reserved. 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.

U2 - 10.1038/ncomms5883

DO - 10.1038/ncomms5883

M3 - Article

SN - 2041-1723

VL - 5

SP - 1

EP - 7

JO - Nature Communications

JF - Nature Communications

ER -

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

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