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

Henriët Springelkamp; René Höhn; Aniket Mishra; Pirro G. Hysi; Chiea Chuen Khor; Stephanie J. Loomis; Jessica N.Cooke Bailey; Jane Gibson; Gudmar Thorleifsson; Sarah F. Janssen; Xiaoyan Luo; Wishal D. Ramdas; Eranga Vithana; Monisha E. Nongpiur; Grant W. Montgomery; Liang Xu; Jenny E. Mountain; Puya Gharahkhani; Yi Lu; Najaf Amin; Lennart C. Karssen; Kar Seng Sim; Elisabeth M. Van Leeuwen; Adriana I. Iglesias; Virginie J.M. Verhoeven; Michael A. Hauser; Seng Chee Loon; Dominiek D.G. Despriet; Abhishek Nag; Cristina Venturini; Paul G. Sanfilippo; Arne Schillert; Jae H. Kang; John Landers; Fridbert Jonasson; Angela J. Cree; Leonieke M.E. Van Koolwijk; Fernando Rivadeneira; Emmanuelle Souzeau; Vesteinn Jonsson; Geeta Menon; Blue Mountains Eye Study-GWAS groupw; Paul Mitchell; Jie Jin Wang; Elena Rochtchina; John Attia; Rodney Scott; Elizabeth G. Holliday; Paul N. Baird; Jing Xie; Michael Inouye; Ananth C. Viswanathan; Xueling Sim; Robert N. Weinreb; Paulus T.V.M. De Jong; Ben A. Oostra; André G. Uitterlinden; Albert Hofman; Sarah Ennis; Unnur Thorsteinsdottir; Kathryn P. Burdon; Wellcome Trust Case Control Consortium 2 (WTCCC2); R. Rand Allingham; Murray H. Brilliant; Donald L. Budenz; William G. Christen; John Fingert; David S. Friedman; Douglas Gaasterland; Terry Gaasterland; Jonathan L. Haines; NEIGHBORHOOD Consortium; Jae Hee Kang; Peter Kraft; Richard K. Lee; Paul R. Lichter; Yutao Liu; Sayoko E. Moroi; Margaret A. Pericak-Vance; Anthony Realini; Julia E. Richards; Joel S. Schuman; William K. Scott; Kuldev Singh; Arthur J. Sit; Douglas Vollrath; Gadi Wollstein; Donald J. Zack; Kang Zhang; Ines Barroso; Jenefer M. Blackwell; Elvira Bramon; Matthew A. Brown; Juan P. Casas; Aiden Corvin; Panos Deloukas; Audrey Duncanson; Janusz Jankowski; Hugh S. Markus; Christopher G. Mathew; Colin N.A. Palmer; Robert Plomin; Anna Rautanen; Stephen J. Sawcer; Richard C. Trembath; Ananth C. Viswanathan; Nicholas W. Wood; Chris C.A. Spencer; Gavin Band; Céline Bellenguez; Colin Freeman; Garrett Hellenthal; Eleni Giannoulatou; Matti Pirinen; Richard Pearson; Amy Strange; Zhan Su; Damjan Vukcevic; Peter Donnelly; Cordelia Langford; Sarah E. Hunt; Sarah Edkins; Rhian Gwilliam; Hannah Blackburn; Suzannah J. Bumpstead; Serge Dronov; Matthew Gillman; Emma Gray; Naomi Hammond; Alagurevathi Jayakumar; Owen T. McCann; Jennifer Liddle; Simon C. Potter; Radhi Ravindrarajah; Michelle Ricketts; Matthew Waller; Paul Weston; Sara Widaa; Pamela Whittaker; Timothy D. Spector; Alireza Mirshahi; Seang Mei Saw; Johannes R. Vingerling; Yik Ying Teo; Roger C.W. Wolfs; Hans G. Lemij; E. Shyong Tai; Nomdo M. Jansonius; Jost B. Jonas; Ching Yu Cheng; Tin Aung; Caroline C.W. Klaver; Jamie E. Craig; Stuart MacGregor; David A. MacKey; Andrew J. Lotery; Kari Stefansson; Arthur A.B. Bergen; Terri L. Young; Janey L. Wiggs; Norbert Pfeiffer; Tien Yin Wong; Louis R. Pasquale; Alex W. Hewitt; Cornelia M. Van Duijn; Christopher J. Hammond

doi:10.1038/ncomms5883

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

Henriët Springelkamp
, René Höhn
, Aniket Mishra
, Pirro G. Hysi
, Chiea Chuen Khor
, Stephanie J. Loomis
, Jessica N.Cooke Bailey
, Jane Gibson
, Gudmar Thorleifsson
, Sarah F. Janssen
, Xiaoyan Luo
, Wishal D. Ramdas
, Eranga Vithana
, Monisha E. Nongpiur
, Grant W. Montgomery
, Liang Xu
, Jenny E. Mountain
, Puya Gharahkhani
, Yi Lu
, Najaf Amin

Lennart C. Karssen, Kar Seng Sim, Elisabeth M. Van Leeuwen, Adriana I. Iglesias, Virginie J.M. Verhoeven, Michael A. Hauser, Seng Chee Loon, Dominiek D.G. Despriet, Abhishek Nag, Cristina Venturini, Paul G. Sanfilippo, Arne Schillert, Jae H. Kang, John Landers, Fridbert Jonasson, Angela J. Cree, Leonieke M.E. Van Koolwijk, Fernando Rivadeneira, Emmanuelle Souzeau, Vesteinn Jonsson, Geeta Menon, Blue Mountains Eye Study-GWAS groupw, Paul Mitchell, Jie Jin Wang, Elena Rochtchina, John Attia, Rodney Scott, Elizabeth G. Holliday, Paul N. Baird, Jing Xie, Michael Inouye, Ananth C. Viswanathan, Xueling Sim, Robert N. Weinreb, Paulus T.V.M. De Jong, Ben A. Oostra, André G. Uitterlinden, Albert Hofman, Sarah Ennis, Unnur Thorsteinsdottir, Kathryn P. Burdon, Wellcome Trust Case Control Consortium 2 (WTCCC2), R. Rand Allingham, Murray H. Brilliant, Donald L. Budenz, William G. Christen, John Fingert, David S. Friedman, Douglas Gaasterland, Terry Gaasterland, Jonathan L. Haines, NEIGHBORHOOD Consortium, Jae Hee Kang, Peter Kraft, Richard K. Lee, Paul R. Lichter, Yutao Liu, Sayoko E. Moroi, Margaret A. Pericak-Vance, Anthony Realini, Julia E. Richards, Joel S. Schuman, William K. Scott, Kuldev Singh, Arthur J. Sit, Douglas Vollrath, Gadi Wollstein, Donald J. Zack, Kang Zhang, Ines Barroso, Jenefer M. Blackwell, Elvira Bramon, Matthew A. Brown, Juan P. Casas, Aiden Corvin, Panos Deloukas, Audrey Duncanson, Janusz Jankowski, Hugh S. Markus, Christopher G. Mathew, Colin N.A. Palmer, Robert Plomin, Anna Rautanen, Stephen J. Sawcer, Richard C. Trembath, Ananth C. Viswanathan, Nicholas W. Wood, Chris C.A. Spencer, Gavin Band, Céline Bellenguez, Colin Freeman, Garrett Hellenthal, Eleni Giannoulatou, Matti Pirinen, Richard Pearson, Amy Strange, Zhan Su, Damjan Vukcevic, Peter Donnelly, Cordelia Langford, Sarah E. Hunt, Sarah Edkins, Rhian Gwilliam, Hannah Blackburn, Suzannah J. Bumpstead, Serge Dronov, Matthew Gillman, Emma Gray, Naomi Hammond, Alagurevathi Jayakumar, Owen T. McCann, Jennifer Liddle, Simon C. Potter, Radhi Ravindrarajah, Michelle Ricketts, Matthew Waller, Paul Weston, Sara Widaa, Pamela Whittaker, Timothy D. Spector, Alireza Mirshahi, Seang Mei Saw, Johannes R. Vingerling, Yik Ying Teo, Roger C.W. Wolfs, Hans G. Lemij, E. Shyong Tai, Nomdo M. Jansonius, Jost B. Jonas, Ching Yu Cheng, Tin Aung, Caroline C.W. Klaver, Jamie E. Craig, Stuart MacGregor, David A. MacKey, Andrew J. Lotery, Kari Stefansson, Arthur A.B. Bergen, Terri L. Young, Janey L. Wiggs, Norbert Pfeiffer, Tien Yin Wong, Louis R. Pasquale, Alex W. Hewitt, Cornelia M. Van Duijn, Christopher J. Hammond

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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.

Original language	English
Article number	5883
Number of pages	7
Journal	Nature Communications
Volume	5
Issue number	4883
DOIs	https://doi.org/10.1038/ncomms5883
Publication status	Published - 22 Sept 2014

Bibliographical note

This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

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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., Nongpiur, M. E., Montgomery, G. W., Xu, L., Mountain, J. E., Gharahkhani, P., Lu, 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(4883), Article 5883. https://doi.org/10.1038/ncomms5883

@article{e72b30f2de654b92be8dadb4a96fe70b,

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

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.",

author = "Henri{\"e}t Springelkamp and Ren{\'e} H{\"o}hn and Aniket Mishra and Hysi, \{Pirro G.\} and Khor, \{Chiea Chuen\} and Loomis, \{Stephanie J.\} and Bailey, \{Jessica N.Cooke\} and Jane Gibson and Gudmar Thorleifsson and Janssen, \{Sarah F.\} and Xiaoyan Luo and Ramdas, \{Wishal D.\} and Eranga Vithana and Nongpiur, \{Monisha E.\} and Montgomery, \{Grant W.\} and Liang Xu and Mountain, \{Jenny E.\} and Puya Gharahkhani and Yi Lu and Najaf Amin and Karssen, \{Lennart C.\} and Sim, \{Kar Seng\} and \{Van Leeuwen\}, \{Elisabeth M.\} and Iglesias, \{Adriana I.\} and Verhoeven, \{Virginie J.M.\} and Hauser, \{Michael A.\} and Loon, \{Seng Chee\} and Despriet, \{Dominiek D.G.\} and Abhishek Nag and Cristina Venturini and Sanfilippo, \{Paul G.\} and Arne Schillert and Kang, \{Jae H.\} and John Landers and Fridbert Jonasson and Cree, \{Angela J.\} and \{Van Koolwijk\}, \{Leonieke M.E.\} and Fernando Rivadeneira and Emmanuelle Souzeau and Vesteinn Jonsson and Geeta Menon and \{Blue Mountains Eye Study-GWAS groupw\} and Paul Mitchell and Wang, \{Jie Jin\} and Elena Rochtchina and John Attia and Rodney Scott and Holliday, \{Elizabeth G.\} and Baird, \{Paul N.\} and Jing Xie and Michael Inouye and Viswanathan, \{Ananth C.\} and Xueling Sim and Weinreb, \{Robert N.\} and \{De Jong\}, \{Paulus T.V.M.\} and Oostra, \{Ben A.\} and Uitterlinden, \{Andr{\'e} G.\} and Albert Hofman and Sarah Ennis and Unnur Thorsteinsdottir and Burdon, \{Kathryn P.\} and \{Wellcome Trust Case Control Consortium 2 (WTCCC2)\} and Allingham, \{R. Rand\} and Brilliant, \{Murray H.\} and Budenz, \{Donald L.\} and Christen, \{William G.\} and John Fingert and Friedman, \{David S.\} and Douglas Gaasterland and Terry Gaasterland and Haines, \{Jonathan L.\} and \{NEIGHBORHOOD Consortium\} and Kang, \{Jae Hee\} and Peter Kraft and Lee, \{Richard K.\} and Lichter, \{Paul R.\} and Yutao Liu and Moroi, \{Sayoko E.\} and Pericak-Vance, \{Margaret A.\} and Anthony Realini and Richards, \{Julia E.\} and Schuman, \{Joel S.\} and Scott, \{William K.\} and Kuldev Singh and Sit, \{Arthur J.\} and Douglas Vollrath and Gadi Wollstein and Zack, \{Donald J.\} and Kang Zhang and Ines Barroso and Blackwell, \{Jenefer M.\} and Elvira Bramon and Brown, \{Matthew A.\} and Casas, \{Juan P.\} and Aiden Corvin and Panos Deloukas and Audrey Duncanson and Janusz Jankowski and Markus, \{Hugh S.\} and Mathew, \{Christopher G.\} and Palmer, \{Colin N.A.\} and Robert Plomin and Anna Rautanen and Sawcer, \{Stephen J.\} and Trembath, \{Richard C.\} and Viswanathan, \{Ananth C.\} and Wood, \{Nicholas W.\} and Spencer, \{Chris C.A.\} and Gavin Band and C{\'e}line Bellenguez and Colin Freeman and Garrett Hellenthal and Eleni Giannoulatou and Matti Pirinen and Richard Pearson and Amy Strange and Zhan Su and Damjan Vukcevic and Peter Donnelly and Cordelia Langford and Hunt, \{Sarah E.\} and Sarah Edkins and Rhian Gwilliam and Hannah Blackburn and Bumpstead, \{Suzannah J.\} and Serge Dronov and Matthew Gillman and Emma Gray and Naomi Hammond and Alagurevathi Jayakumar and McCann, \{Owen T.\} and Jennifer Liddle and Potter, \{Simon C.\} and Radhi Ravindrarajah and Michelle Ricketts and Matthew Waller and Paul Weston and Sara Widaa and Pamela Whittaker and Spector, \{Timothy D.\} and Alireza Mirshahi and Saw, \{Seang Mei\} and Vingerling, \{Johannes R.\} and Teo, \{Yik Ying\} and Wolfs, \{Roger C.W.\} and Lemij, \{Hans G.\} and Tai, \{E. Shyong\} and Jansonius, \{Nomdo M.\} and Jonas, \{Jost B.\} and Cheng, \{Ching Yu\} and Tin Aung and Klaver, \{Caroline C.W.\} and Craig, \{Jamie E.\} and Stuart MacGregor and MacKey, \{David A.\} and Lotery, \{Andrew J.\} and Kari Stefansson and Bergen, \{Arthur A.B.\} and Young, \{Terri L.\} and Wiggs, \{Janey L.\} and Norbert Pfeiffer and Wong, \{Tien Yin\} and Pasquale, \{Louis R.\} and Hewitt, \{Alex W.\} and \{Van Duijn\}, \{Cornelia M.\} and Hammond, \{Christopher J.\}",

note = "This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article{\textquoteright}s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/",

year = "2014",

month = sep,

day = "22",

doi = "10.1038/ncomms5883",

language = "English",

volume = "5",

journal = "Nature Communications",

issn = "2041-1723",

publisher = "Nature Research",

number = "4883",

}

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, E, Nongpiur, ME, Montgomery, GW, Xu, L, Mountain, JE, Gharahkhani, P, Lu, Y, Amin, N, Karssen, LC, Sim, KS, 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, Jonasson, F, Cree, AJ, Van Koolwijk, LME, Rivadeneira, F, Souzeau, E, Jonsson, V, Menon, G, Blue Mountains Eye Study-GWAS groupw, Mitchell, P, Wang, JJ, Rochtchina, E, Attia, J, Scott, R, Holliday, EG, Baird, PN, Xie, J, Inouye, M, Viswanathan, AC, Sim, X, Weinreb, RN, De Jong, PTVM, Oostra, BA, Uitterlinden, AG, Hofman, A, Ennis, S, Thorsteinsdottir, U, Burdon, KP, Wellcome Trust Case Control Consortium 2 (WTCCC2), Allingham, RR, Brilliant, MH, Budenz, DL, Christen, WG, Fingert, J, Friedman, DS, Gaasterland, D, Gaasterland, T, Haines, JL, NEIGHBORHOOD Consortium, Kang, JH, Kraft, P, Lee, RK, Lichter, PR, Liu, Y, Moroi, SE, Pericak-Vance, MA, Realini, A, 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, R, Rautanen, A, Sawcer, SJ, Trembath, RC, Viswanathan, AC, Wood, NW, Spencer, CCA, 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, SE, Edkins, S, Gwilliam, R, Blackburn, H, Bumpstead, SJ, Dronov, S, Gillman, M, Gray, E, Hammond, N, Jayakumar, A, McCann, OT, Liddle, J, Potter, SC, Ravindrarajah, R, Ricketts, M, Waller, M, Weston, P, Widaa, S, Whittaker, P, Spector, TD, Mirshahi, A, Saw, SM, Vingerling, JR, Teo, YY, Wolfs, RCW, Lemij, HG, Tai, ES, Jansonius, NM, Jonas, JB, Cheng, CY, Aung, T, Klaver, CCW, Craig, JE, MacGregor, S, MacKey, DA, Lotery, AJ, Stefansson, K, Bergen, AAB, Young, TL, Wiggs, JL, Pfeiffer, N, Wong, TY, 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, no. 4883, 5883. 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, Henriët

AU - Höhn, René

AU - Mishra, Aniket

AU - Hysi, Pirro G.

AU - Khor, Chiea Chuen

AU - Loomis, Stephanie J.

AU - Bailey, Jessica N.Cooke

AU - Gibson, Jane

AU - Thorleifsson, Gudmar

AU - Janssen, Sarah F.

AU - Luo, Xiaoyan

AU - Ramdas, Wishal D.

AU - Vithana, Eranga

AU - Nongpiur, Monisha E.

AU - Montgomery, Grant W.

AU - Xu, Liang

AU - Mountain, Jenny E.

AU - Gharahkhani, Puya

AU - Lu, Yi

AU - Amin, Najaf

AU - Karssen, Lennart C.

AU - Sim, Kar Seng

AU - Van Leeuwen, Elisabeth M.

AU - Iglesias, Adriana I.

AU - Verhoeven, Virginie J.M.

AU - Hauser, Michael A.

AU - Loon, Seng Chee

AU - Despriet, Dominiek D.G.

AU - Nag, Abhishek

AU - Venturini, Cristina

AU - Sanfilippo, Paul G.

AU - Schillert, Arne

AU - Kang, Jae H.

AU - Landers, John

AU - Jonasson, Fridbert

AU - Cree, Angela J.

AU - Van Koolwijk, Leonieke M.E.

AU - Rivadeneira, Fernando

AU - Souzeau, Emmanuelle

AU - Jonsson, Vesteinn

AU - Menon, Geeta

AU - Blue Mountains Eye Study-GWAS groupw

AU - Mitchell, Paul

AU - Wang, Jie Jin

AU - Rochtchina, Elena

AU - Attia, John

AU - Scott, Rodney

AU - Holliday, Elizabeth G.

AU - Baird, Paul N.

AU - Xie, Jing

AU - Inouye, Michael

AU - Viswanathan, Ananth C.

AU - Sim, Xueling

AU - Weinreb, Robert N.

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

AU - Oostra, Ben A.

AU - Uitterlinden, André G.

AU - Hofman, Albert

AU - Ennis, Sarah

AU - Thorsteinsdottir, Unnur

AU - Burdon, Kathryn P.

AU - Wellcome Trust Case Control Consortium 2 (WTCCC2)

AU - Allingham, R. Rand

AU - Brilliant, Murray H.

AU - Budenz, Donald L.

AU - Christen, William G.

AU - Fingert, John

AU - Friedman, David S.

AU - Gaasterland, Douglas

AU - Gaasterland, Terry

AU - Haines, Jonathan L.

AU - NEIGHBORHOOD Consortium, null

AU - Kang, Jae Hee

AU - Kraft, Peter

AU - Lee, Richard K.

AU - Lichter, Paul R.

AU - Liu, Yutao

AU - Moroi, Sayoko E.

AU - Pericak-Vance, Margaret A.

AU - Realini, Anthony

AU - Richards, Julia E.

AU - Schuman, Joel S.

AU - Scott, William K.

AU - Singh, Kuldev

AU - Sit, Arthur J.

AU - Vollrath, Douglas

AU - Wollstein, Gadi

AU - Zack, Donald J.

AU - Zhang, Kang

AU - Barroso, Ines

AU - Blackwell, Jenefer M.

AU - Bramon, Elvira

AU - Brown, Matthew A.

AU - Casas, Juan P.

AU - Corvin, Aiden

AU - Deloukas, Panos

AU - Duncanson, Audrey

AU - Jankowski, Janusz

AU - Markus, Hugh S.

AU - Mathew, Christopher G.

AU - Palmer, Colin N.A.

AU - Plomin, Robert

AU - Rautanen, Anna

AU - Sawcer, Stephen J.

AU - Trembath, Richard C.

AU - Viswanathan, Ananth C.

AU - Wood, Nicholas W.

AU - Spencer, Chris C.A.

AU - Band, Gavin

AU - Bellenguez, Céline

AU - Freeman, Colin

AU - Hellenthal, Garrett

AU - Giannoulatou, Eleni

AU - Pirinen, Matti

AU - Pearson, Richard

AU - Strange, Amy

AU - Su, Zhan

AU - Vukcevic, Damjan

AU - Donnelly, Peter

AU - Langford, Cordelia

AU - Hunt, Sarah E.

AU - Edkins, Sarah

AU - Gwilliam, Rhian

AU - Blackburn, Hannah

AU - Bumpstead, Suzannah J.

AU - Dronov, Serge

AU - Gillman, Matthew

AU - Gray, Emma

AU - Hammond, Naomi

AU - Jayakumar, Alagurevathi

AU - McCann, Owen T.

AU - Liddle, Jennifer

AU - Potter, Simon C.

AU - Ravindrarajah, Radhi

AU - Ricketts, Michelle

AU - Waller, Matthew

AU - Weston, Paul

AU - Widaa, Sara

AU - Whittaker, Pamela

AU - Spector, Timothy D.

AU - Mirshahi, Alireza

AU - Saw, Seang Mei

AU - Vingerling, Johannes R.

AU - Teo, Yik Ying

AU - Wolfs, Roger C.W.

AU - Lemij, Hans G.

AU - Tai, E. Shyong

AU - Jansonius, Nomdo M.

AU - Jonas, Jost B.

AU - Cheng, Ching Yu

AU - Aung, Tin

AU - Klaver, Caroline C.W.

AU - Craig, Jamie E.

AU - MacGregor, Stuart

AU - MacKey, David A.

AU - Lotery, Andrew J.

AU - Stefansson, Kari

AU - Bergen, Arthur A.B.

AU - Young, Terri L.

AU - Wiggs, Janey L.

AU - Pfeiffer, Norbert

AU - Wong, Tien Yin

AU - Pasquale, Louis R.

AU - Hewitt, Alex W.

AU - Van Duijn, Cornelia M.

AU - Hammond, Christopher J.

N1 - This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

PY - 2014/9/22

Y1 - 2014/9/22

N2 - 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 - 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.

UR - https://www.scopus.com/pages/publications/84921682483

U2 - 10.1038/ncomms5883

DO - 10.1038/ncomms5883

M3 - Review article

C2 - 25241763

SN - 2041-1723

VL - 5

JO - Nature Communications

JF - Nature Communications

IS - 4883

M1 - 5883

ER -

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

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