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

Authors :
Springelkamp, Henriët.
Höhn, René
Mishra, Aniket
Hysi, Pirro G.
Khor, Chiea-Chuen
Loomis, Stephanie J.
Bailey, Jessica N. Cooke
Gibson, Jane
Thorleifsson, Gudmar
Janssen, Sarah F.
Luo, Xiaoyan
Ramdas, Wishal D.
Vithana, Eranga
Nongpiur, Monisha E.
Montgomery, Grant W.
Xu, Liang
Mountain, Jenny E.
Gharahkhani, Puya
Lu, Yi
Amin, Najaf
Karssen, Lennart C.
Sim, Kar-Seng
van Leeuwen, Elisabeth M.
Iglesias, Adriana I.
Verhoeven, Virginie J. M.
Hauser, Michael A.
Loon, Seng-Chee
Despriet, Dominiek D. G.
Nag, Abhishek
Venturini, Cristina
Sanfilippo, Paul G.
Schillert, Arne
Kang, Jae H.
Landers, John
Jonasson, Fridbert
Cree, Angela J.
van Koolwijk, Leonieke M. E.
Rivadeneira, Fernando
Souzeau, Emmanuelle
Jonsson, Vesteinn
Menon, Geeta
Mitchell, Paul
Wang, Jie Jin
Rochtchina, Elena
Attia, John
Scott, Rodney
Holliday, Elizabeth G.
Wong, Tien-Yin
Baird, Paul N.
Xie, Jing
Inouye, Michael
Viswanathan, Ananth
Sim, Xueling
Weinreb, Robert N.
de Jong, Paulus T. V. M.
Oostra, Ben A.
Uitterlinden, André G.
Hofman, Albert
Ennis, Sarah
Thorsteinsdottir, Unnur
Burdon, Kathryn P.
Allingham, R. Rand
Brilliant, Murray H.
Budenz, Donald L.
Cooke Bailey, Jessica N.
Christen, William G.
Fingert, John
Friedman, David S.
Gaasterland, Douglas
Gaasterland, Terry
Haines, Jonathan L.
Kang, Jae Hee
Kraft, Peter
Lee, Richard K.
Lichter, Paul R.
Liu, Yutao
Moroi, Sayoko E.
Pasquale, Louis R.
Pericak-Vance, Margaret A.
Realini, Anthony
Richards, Julia E.
Schuman, Joel S.
Scott, William K.
Singh, Kuldev
Sit, Arthur J.
Vollrath, Douglas
Wiggs, Janey L.
Wollstein, Gadi
Zack, Donald J.
Zhang, Kang
Donnelly (Chair), Peter
Barroso (Deputy Chair), Ines
Blackwell, Jenefer M.
Bramon, Elvira
Brown, Matthew A.
Casas, Juan P.
Corvin, Aiden
Deloukas, Panos
Duncanson, Audrey
Jankowski, Janusz
Markus, Hugh S.
Mathew, Christopher G.
Palmer, Colin N. A.
Plomin, Robert
Rautanen, Anna
Sawcer, Stephen J.
Trembath, Richard C.
Viswanathan, Ananth C.
Wood, Nicholas W.
Spencer, Chris C. A.
Band, Gavin
Bellenguez, Céline
Freeman, Colin
Hellenthal, Garrett
Giannoulatou, Eleni
Pirinen, Matti
Pearson, Richard
Strange, Amy
Su, Zhan
Vukcevic, Damjan
Donnelly, Peter
Langford, Cordelia
Hunt, Sarah E.
Edkins, Sarah
Gwilliam, Rhian
Blackburn, Hannah
Bumpstead, Suzannah J.
Dronov, Serge
Gillman, Matthew
Gray, Emma
Hammond, Naomi
Jayakumar, Alagurevathi
McCann, Owen T.
Liddle, Jennifer
Potter, Simon C.
Ravindrarajah, Radhi
Ricketts, Michelle
Waller, Matthew
Weston, Paul
Widaa, Sara
Whittaker, Pamela
Barroso, Ines
Mathew (Chair), Christopher G.
Spector, Timothy D.
Mirshahi, Alireza
Saw, Seang-Mei
Vingerling, Johannes R.
Teo, Yik-Ying
Wolfs, Roger C. W.
Lemij, Hans G.
Tai, E-Shyong
Jansonius, Nomdo M.
Jonas, Jost B.
Cheng, Ching-Yu
Aung, Tin
Klaver, Caroline C. W.
Craig, Jamie E.
Macgregor, Stuart
Mackey, David A.
Lotery, Andrew J.
Stefansson, Kari
Bergen, Arthur A. B.
Young, Terri L.
Pfeiffer, Norbert
Hewitt, Alex W.
van Duijn, Cornelia M.
Hammond, Christopher J.
Springelkamp, Henriët.
Höhn, René
Mishra, Aniket
Hysi, Pirro G.
Khor, Chiea-Chuen
Loomis, Stephanie J.
Bailey, Jessica N. Cooke
Gibson, Jane
Thorleifsson, Gudmar
Janssen, Sarah F.
Luo, Xiaoyan
Ramdas, Wishal D.
Vithana, Eranga
Nongpiur, Monisha E.
Montgomery, Grant W.
Xu, Liang
Mountain, Jenny E.
Gharahkhani, Puya
Lu, Yi
Amin, Najaf
Karssen, Lennart C.
Sim, Kar-Seng
van Leeuwen, Elisabeth M.
Iglesias, Adriana I.
Verhoeven, Virginie J. M.
Hauser, Michael A.
Loon, Seng-Chee
Despriet, Dominiek D. G.
Nag, Abhishek
Venturini, Cristina
Sanfilippo, Paul G.
Schillert, Arne
Kang, Jae H.
Landers, John
Jonasson, Fridbert
Cree, Angela J.
van Koolwijk, Leonieke M. E.
Rivadeneira, Fernando
Souzeau, Emmanuelle
Jonsson, Vesteinn
Menon, Geeta
Mitchell, Paul
Wang, Jie Jin
Rochtchina, Elena
Attia, John
Scott, Rodney
Holliday, Elizabeth G.
Wong, Tien-Yin
Baird, Paul N.
Xie, Jing
Inouye, Michael
Viswanathan, Ananth
Sim, Xueling
Weinreb, Robert N.
de Jong, Paulus T. V. M.
Oostra, Ben A.
Uitterlinden, André G.
Hofman, Albert
Ennis, Sarah
Thorsteinsdottir, Unnur
Burdon, Kathryn P.
Allingham, R. Rand
Brilliant, Murray H.
Budenz, Donald L.
Cooke Bailey, Jessica N.
Christen, William G.
Fingert, John
Friedman, David S.
Gaasterland, Douglas
Gaasterland, Terry
Haines, Jonathan L.
Kang, Jae Hee
Kraft, Peter
Lee, Richard K.
Lichter, Paul R.
Liu, Yutao
Moroi, Sayoko E.
Pasquale, Louis R.
Pericak-Vance, Margaret A.
Realini, Anthony
Richards, Julia E.
Schuman, Joel S.
Scott, William K.
Singh, Kuldev
Sit, Arthur J.
Vollrath, Douglas
Wiggs, Janey L.
Wollstein, Gadi
Zack, Donald J.
Zhang, Kang
Donnelly (Chair), Peter
Barroso (Deputy Chair), Ines
Blackwell, Jenefer M.
Bramon, Elvira
Brown, Matthew A.
Casas, Juan P.
Corvin, Aiden
Deloukas, Panos
Duncanson, Audrey
Jankowski, Janusz
Markus, Hugh S.
Mathew, Christopher G.
Palmer, Colin N. A.
Plomin, Robert
Rautanen, Anna
Sawcer, Stephen J.
Trembath, Richard C.
Viswanathan, Ananth C.
Wood, Nicholas W.
Spencer, Chris C. A.
Band, Gavin
Bellenguez, Céline
Freeman, Colin
Hellenthal, Garrett
Giannoulatou, Eleni
Pirinen, Matti
Pearson, Richard
Strange, Amy
Su, Zhan
Vukcevic, Damjan
Donnelly, Peter
Langford, Cordelia
Hunt, Sarah E.
Edkins, Sarah
Gwilliam, Rhian
Blackburn, Hannah
Bumpstead, Suzannah J.
Dronov, Serge
Gillman, Matthew
Gray, Emma
Hammond, Naomi
Jayakumar, Alagurevathi
McCann, Owen T.
Liddle, Jennifer
Potter, Simon C.
Ravindrarajah, Radhi
Ricketts, Michelle
Waller, Matthew
Weston, Paul
Widaa, Sara
Whittaker, Pamela
Barroso, Ines
Mathew (Chair), Christopher G.
Spector, Timothy D.
Mirshahi, Alireza
Saw, Seang-Mei
Vingerling, Johannes R.
Teo, Yik-Ying
Wolfs, Roger C. W.
Lemij, Hans G.
Tai, E-Shyong
Jansonius, Nomdo M.
Jonas, Jost B.
Cheng, Ching-Yu
Aung, Tin
Klaver, Caroline C. W.
Craig, Jamie E.
Macgregor, Stuart
Mackey, David A.
Lotery, Andrew J.
Stefansson, Kari
Bergen, Arthur A. B.
Young, Terri L.
Pfeiffer, Norbert
Hewitt, Alex W.
van Duijn, Cornelia M.
Hammond, Christopher J.
Publication Year :
2014

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.

Details

Database :
OAIster
Notes :
application/pdf, English
Publication Type :
Electronic Resource
Accession number :
edsoai.on1365546328
Document Type :
Electronic Resource