The University of Southampton
University of Southampton Institutional Repository

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

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
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.
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Springelkamp, Henriët
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Höhn, René
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Mishra, Aniket
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Hysi, Pirro G.
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Khor, Chiea-Chuen
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Loomis, Stephanie J.
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Bailey, Jessica N. Cooke
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Gibson, Jane
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Thorleifsson, Gudmar
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Janssen, Sarah F.
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Luo, Xiaoyan
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Ramdas, Wishal D.
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Nongpiur, Monisha E.
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Montgomery, Grant W.
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Xu, Liang
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Mountain, Jenny E.
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Gharahkhani, Puya
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Lu, Yi
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Sim, Kar-Seng
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van Leeuwen, Elisabeth M.
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Iglesias, Adriana I.
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Verhoeven, Virginie J.M.
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Hauser, Michael A.
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Despriet, Dominiek D.G.
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Nag, Abhishek
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Venturini, Cristina
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Sanfilippo, Paul G.
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Schillert, Arne
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Kang, Jae H.
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Landers, John
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Jonasson, Fridbert
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Cree, Angela J.
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van Koolwijk, Leonieke M.E.
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Rivadeneira, Fernando
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Souzeau, Emmanuelle
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Jonsson, Vesteinn
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Menon, Geeta
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Mitchell, Paul
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Wang, Jie Jin
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Scott, Rodney
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Holliday, Elizabeth G.
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Baird, Paul N.
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Xie, Jing
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Inouye, Michael
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Viswanathan, Ananth
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Sim, Xueling
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Weinreb, Robert N.
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de Jong, Paulus T.V.M.
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Oostra, Ben A.
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Uitterlinden, André G.
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Thorsteinsdottir, Unnur
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Burdon, Kathryn P.
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Allingham, R. Rand
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Brilliant, Murray H.
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Budenz, Donald L.
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Cooke Bailey, Jessica N.
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Christen, William G.
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Fingert, John
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Friedman, David S.
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Gaasterland, Douglas
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Gaasterland, Terry
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Haines, Jonathan L.
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Kang, Jae Hee
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Kraft, Peter
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Lee, Richard K.
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Lichter, Paul R.
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Liu, Yutao
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van Duijn, Cornelia M.
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Moroi, Sayoko E.
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Pasquale, Louis R.
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Pericak-Vance, Margaret A.
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Realini, Anthony
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Richards, Julia E.
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Schuman, Joel S.
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Scott, William K.
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Singh, Kuldev
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Sit, Arthur J.
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Vollrath, Douglas
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Wiggs, Janey L.
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Wollstein, Gadi
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Zhang, Kang
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Donnelly (Chair), Peter
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Barroso (Deputy Chair), Ines
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Blackwell, Jenefer M.
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Bramon, Elvira
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Brown, Matthew A.
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Casas, Juan P.
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Deloukas, Panos
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Jankowski, Janusz
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Markus, Hugh S.
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Mathew, Christopher G.
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Palmer, Colin N.A.
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Plomin, Robert
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Rautanen, Anna
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Sawcer, Stephen J.
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Trembath, Richard C.
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Viswanathan, Ananth C.
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Wood, Nicholas W.
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Spencer, Chris C.A.
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Band, Gavin
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Freeman, Colin
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Hellenthal, Garrett
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Giannoulatou, Eleni
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Pirinen, Matti
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Hammond, Naomi
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Barroso, Ines
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Mathew (Chair), Christopher G.
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Saw, Seang-Mei
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Stefansson, Kari
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Hewitt, Alex W.
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Springelkamp, Henriët
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Höhn, René
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Mishra, Aniket
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Hysi, Pirro G.
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Khor, Chiea-Chuen
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Loomis, Stephanie J.
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Bailey, Jessica N. Cooke
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Gibson, Jane
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Thorleifsson, Gudmar
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Janssen, Sarah F.
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Luo, Xiaoyan
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Ramdas, Wishal D.
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Vithana, Eranga
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Nongpiur, Monisha E.
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Montgomery, Grant W.
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Xu, Liang
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Mountain, Jenny E.
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Gharahkhani, Puya
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Lu, Yi
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Amin, Najaf
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van Leeuwen, Elisabeth M.
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Iglesias, Adriana I.
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Verhoeven, Virginie J.M.
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Hauser, Michael A.
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Loon, Seng-Chee
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Despriet, Dominiek D.G.
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Nag, Abhishek
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Venturini, Cristina
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Sanfilippo, Paul G.
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Schillert, Arne
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Kang, Jae H.
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Landers, John
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Jonasson, Fridbert
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van Koolwijk, Leonieke M.E.
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Souzeau, Emmanuelle
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Jonsson, Vesteinn
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Menon, Geeta
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Mitchell, Paul
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Wang, Jie Jin
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Rochtchina, Elena
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Attia, John
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Scott, Rodney
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Holliday, Elizabeth G.
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Wong, Tien-Yin
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Baird, Paul N.
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Xie, Jing
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Inouye, Michael
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Viswanathan, Ananth
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Sim, Xueling
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Weinreb, Robert N.
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de Jong, Paulus T.V.M.
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Oostra, Ben A.
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Uitterlinden, André G.
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Hofman, Albert
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Ennis, Sarah
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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, van Duijn, Cornelia M., 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., Hammond, Christopher J., 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 and Hewitt, Alex W. (2014) Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nature Communications, 5, 4883. (doi:10.1038/ncomms5883).

Record type: Article

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.

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Accepted/In Press date: 4 August 2014
e-pub ahead of print date: 22 September 2014
Organisations: Human Development & Health, Centre for Biological Sciences, Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 369296
URI: https://eprints.soton.ac.uk/id/eprint/369296
PURE UUID: 22a9f426-e3b8-4d38-9b23-e6370868df70
ORCID for Jane Gibson: ORCID iD orcid.org/0000-0002-0973-8285
ORCID for Sarah Ennis: ORCID iD orcid.org/0000-0003-2648-0869
ORCID for Andrew J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

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Date deposited: 30 Sep 2014 12:58
Last modified: 31 Jan 2019 01:37

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Contributors

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

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