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

Springelkamp, Henriet; Höhn, René; Hysi, Pirro G.; Mishra, Aniket; Khor, Chiea-Chuen; Loomis, Stephanie J.; Bailey, Jessica N. Cooke; Janssen, Sarah F.; Hoehn, Rene; van Leeuwen, Elisabeth M.; Ramdas, Wishal D.; Gibson, Jane; Nongpiur, Monisha E.; Xu, Liang; Thorleifsson, Gudmar; Mountain, Jenny E.; Gharahkhani, Puya; Montgomery, GrantW W.; Lu, Yi; van Koolwijk, Leonieke M. E.; Amin, Najaf; Karssen, Lennart C.; Luo, Xiaoyan; Sim, Kar-Seng; Droniv, Serge; Iglesias, Adriana I.; Vithana, Eranga; Van Leeuwen, E. M.; Verhoeven, Virginie J. M.; Hauser, Michael A.; Loon, Seng-Chee; Despriet, Dominiek D. G.; de Jong, Paulus T. V. M.; Nag, Abhishek; Venturini, Cristina; Sanfilippo, Paul G.; Schillert, Arne; Kang, Jae H.; Landers, John; Ravindrarajah, Alagurevathi; Jonasson, Fridbert; Van Koolwijk, L. M. E.; Cree, Angela J.; Mitchell, Paul; Rivadeneira, Fernando; Xie, Jing; Wang, Jie Jin; Souzeau, Emmanuelle; Rochtchina, Elena; Jonsson, Vesteinn; Attia, John; Menon, Geeta; Scott, Rodney; Weinreb, Robert N.; Holliday, Elizabeth G.; Baird, Paul N.; Inouye, Michael; Rocketts, Michelle; Sim, Xueling; Pg, Hysi; De Jong, P. T. V. M.; Cooke Bailey, Jessica N.; Oostra, Ben A.; Rand Allingham, R.; Allingham, R. Rand; Uitterlinden, Andre G.; Hofman, Albert; Cc, Khor; Brilliant, Murray H.; Ennis, Sarah; Allingham, R. R.; Budenz, Donald L.; Thorsteinsdottir, Unnur; Burdon, Kathryn P.; Christen, William G.; Fingert, John; Friedman, David S.; Wong, Tien-Yin; Gaasterland, Douglas; Gaasterland, Terry; Kang, Jae Hee; Kraft, Peter; Haines, Jonathan L.; Lee, Richard K.; Lichter, Paul R.; Wollstein, Gadi; Liu, Yutao; Zack, Donald J.; Moroi, Sayoko E.; Viswanathan, Ananth C.; Pericak-Vance, Margaret A.; Zhang, Kang; Realini, Anthony; Sj, Loomis; Richards, Julia E.; Schuman, Joel S.; Scott, William K.; Singh, Kuldev; Sit, Arthur J.; Vollrath, Douglas; van Duijn, Cornelia M.; Jn, Bailey; Blackwell, Jenefer M.; Bramon, Elvira; Brown, Matthew A.; Donnelly (Chair), Peter; Barroso (Deputy Chair), Ines; Wood, Nicholas W.; Casas, Juan P.; Corvin, Aiden; Deloukas, Panos; Wiggs, Janey L.; Barroso, Ines; Duncanson, Audrey; Jankowski, Janusz; Markus, Hugh S.; Mathew, Christopher G.; Palmer, Colin N. A.; Plomin, Robert; Donnelly, Peter; Rautanen, Anna; Sawcer, Stephen J.; Pasquale, Louis R.; Trembath, Richard C.; Spencer, Chris C. A.; Band, Gavin; Bellenguez, Céline; Freeman, Colin; Hellenthal, Garrett; Giannoulatou, Eleni; Pirinen, Matti; Pearson, Richard; Strange, Amy; (Chair, Peter Donnelly; Su, Zhan; Weston, Paul; Vukcevic, Damjan; Widaa, Sara; Langford, Cordelia; Hunt, Sarah E.; Chair, Ines Barroso (Deputy; Edkins, Sarah; Whittaker, Pamela; Gwilliam, Rhian; Blackburn, Hannah; Bumpstead, Suzannah J.; Dronov, Serge; Gillman, Matthew; Sf, Janssen; Gray, Emma; Hammond, Naomi; Jayakumar, Alagurevathi; Ravindrarajah, Radhi; McCann, Owen T.; Wolfs, Roger C. W.; Liddle, Jennifer; Potter, Simon C.; Ricketts, Michelle; Waller, Matthew; Ravindrarajah, R.; Spector, Timothy D.; Mirshahi, Alireza; Saw, Seang-Mei; Shyong Tai, E.; Vingerling, Johannes R.; Young, Terri L.; Teo, Yik-Ying; Allingham, R. Band; Wd, Ramdas; Lemij, Hans G.; Mathew (Chair), Christopher G.; Jansonius, Nomdo M.; Tai, E.-Shyong; Jonas, Jost B.; Hauder, Michael A.; Cheng, Ching-Yu; Aung, Tin; Klaver, Caroline C. W.; Craig, Jamie E.; Macgregor, Stuart; Mackey, David A.; Mathew (Chair, Christopher G.; Lotery, Andrew J.; Stefansson, Kari; Bergen, Arthur A. B.; Grp, Blue Mt Eye Study Gwas; Group, Blue Mountains Eye Study-Gwas; Pfeiffer, Norbert; Neighborhood, Consortium; 2 (Wtccc2), Wellcome Trust Case Control Consortium; Hewitt, Alex W.; Cj, Hammond; Van Duijn, C. M.; Hammond, Christopher J.; Consor, Wellcome Trust Case Control

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

Journal article published in 2014 by Henriet Springelkamp, René Höhn, Pirro G. Hysi, Aniket Mishra, Chiea-Chuen Khor, Stephanie J. Loomis, Jessica N. Cooke Bailey, Sarah F. Janssen, Rene Hoehn, Elisabeth M. van Leeuwen, Wishal D. Ramdas, Jane Gibson, Monisha E. Nongpiur, Liang Xu, Gudmar Thorleifsson and other authors.

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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.

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

Abstract