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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.on1137481375
Document Type :
Electronic Resource