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

Springelkamp, Henriët; Höhn, René; Luo, Xiaoyan; 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.; Ramdas, Wishal D.; Viswanathan, Ananth C.; Wood, Nicholas W.; Spencer, Chris C. A.; Band, Gavin; Bellenguez, Céline; Freeman, Colin; Hellenthal, Garrett; Giannoulatou, Eleni; Pirinen, Matti; Pearson, Richard; Vithana, Eranga; Strange, Amy; Su, Zhan; Vukcevic, Damjan; Donnelly, Peter; Langford, Cordelia; Hunt, Sarah E.; Edkins, Sarah; Gwilliam, Rhian; Blackburn, Hannah; Bumpstead, Suzannah J.; Nongpiur, Monisha E.; Droniv, Serge; Gillman, Matthew; Gray, Emma; Hammond, Naomi; Jayakumar, Alagurevathi; McCann, Owen T.; Liddle, Jennifer; Potter, Simon C.; Ravindrarajah, Alagurevathi; Rocketts, Michelle; Montgomery, Grant W.; Waller, Matthew; Weston, Paul; Widaa, Sara; Whittaker, Pamela; Barroso, Ines; Blackwell, Jenefer M.; Brown , Matthew A.; Corvin, Aiden; Xu, Liang; Spencer , Chris C. A.; Spector, Timothy D.; Mirshahi, Alireza; Saw, Seang-Mei; Vingerling, Johannes R.; Teo, Yik-Ying; Haines, Jonathan L.; Wolfs, Roger C. W.; Lemij, Hans G.; Tai, E-Shyong; Mountain, Jenny E.; Jansonius, Nomdo M.; Jonas, Jost B.; Hammond, CJ; Gharahkhani, Puya; Lu, Yi; Amin, Najaf; Mishra, Aniket; 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; Hysi, Pirro G.; 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; Khor, Chiea-Cheun; Menon, Geeta; Mitchell, Paul; Wang, Jie Jin; Rochtchina, Elena; Attia, John; Scott, Rodney; Holliday, Elizabeth G.; Wong, Tien-Yin; Baird, Paul N.; Xie, Jing; Loomis, Stephanie J.; 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, Unnu; Bailey, Jessica N. Cooke; Burdon, Kathryn; Allingham, R. Band; Brilliant, Murray H.; Budenz, Donald L.; Christen, William G.; Fingert, John; Friedman, David S.; Gaasterland, Douglas; Gaasterland, Terry; Gibson, Jane; Hauder, Michael A.; Kang, Jae Hee; Kraft, Peter; Lee, Richard K.; Lichter, Paul R.; Liu, Yutao; Moroi, Sayoko E.; Pasquale, Louis R.; Thorleifsson, Gudmar; 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.; Janssen, Sarah F.; Wollstein, Gadi; Zack, Donald J.; Zhang, Kang; Bramon, Elvira; Brown, Matthew A.; Casas, Juan P.

Title: Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Creator: Springelkamp, Henriët; Höhn, René; Luo, Xiaoyan; 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.; Ramdas, Wishal D.; Viswanathan, Ananth C.; Wood, Nicholas W.; Spencer, Chris C. A.; Band, Gavin; Bellenguez, Céline; Freeman, Colin; Hellenthal, Garrett; Giannoulatou, Eleni; Pirinen, Matti; Pearson, Richard; Vithana, Eranga; Strange, Amy; Su, Zhan; Vukcevic, Damjan; Donnelly, Peter; Langford, Cordelia; Hunt, Sarah E.; Edkins, Sarah; Gwilliam, Rhian; Blackburn, Hannah; Bumpstead, Suzannah J.; Nongpiur, Monisha E.; Droniv, Serge; Gillman, Matthew; Gray, Emma; Hammond, Naomi; Jayakumar, Alagurevathi; McCann, Owen T.; Liddle, Jennifer; Potter, Simon C.; Ravindrarajah, Alagurevathi; Rocketts, Michelle; Montgomery, Grant W.; Waller, Matthew; Weston, Paul; Widaa, Sara; Whittaker, Pamela; Barroso, Ines; Blackwell, Jenefer M.; Brown , Matthew A.; Corvin, Aiden; Xu, Liang; Spencer , Chris C. A.; Spector, Timothy D.; Mirshahi, Alireza; Saw, Seang-Mei; Vingerling, Johannes R.; Teo, Yik-Ying; Haines, Jonathan L.; Wolfs, Roger C. W.; Lemij, Hans G.; Tai, E-Shyong; Mountain, Jenny E.; Jansonius, Nomdo M.; Jonas, Jost B.; Hammond, CJ; Gharahkhani, Puya; Lu, Yi; Amin, Najaf; Mishra, Aniket; 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; Hysi, Pirro G.; 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; Khor, Chiea-Cheun; Menon, Geeta; Mitchell, Paul; Wang, Jie Jin; Rochtchina, Elena; Attia, John; Scott, Rodney; Holliday, Elizabeth G.; Wong, Tien-Yin; Baird, Paul N.; Xie, Jing; Loomis, Stephanie J.; 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, Unnu; Bailey, Jessica N. Cooke; Burdon, Kathryn; Allingham, R. Band; Brilliant, Murray H.; Budenz, Donald L.; Christen, William G.; Fingert, John; Friedman, David S.; Gaasterland, Douglas; Gaasterland, Terry; Gibson, Jane; Hauder, Michael A.; Kang, Jae Hee; Kraft, Peter; Lee, Richard K.; Lichter, Paul R.; Liu, Yutao; Moroi, Sayoko E.; Pasquale, Louis R.; Thorleifsson, Gudmar; 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.; Janssen, Sarah F.; Wollstein, Gadi; Zack, Donald J.; Zhang, Kang; Bramon, Elvira; Brown, Matthew A.; Casas, Juan P.
Relation: Nature Communications Vol. 5, p. 1-7
Publisher Link: http://dx.doi.org/10.1038/ncomms5883
Publisher: Nature Publishing Group
Resource Type: journal article
Date: 2014
Description: 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.
Subject: genetics; glaucoma; blindness; optic disc cupping
Identifier: http://hdl.handle.net/1959.13/1302885
Identifier: uon:20566
Identifier: ISSN:2041-1723
Language: eng
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