@article {280821, title = {Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.}, journal = {Nat Commun}, volume = {5}, year = {2014}, month = {2014}, pages = {4883}, 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.}, issn = {2041-1723}, doi = {10.1038/ncomms5883}, author = {Springelkamp, Henri{\"e}t and H{\"o}hn, Ren{\'e} and Mishra, Aniket and Hysi, Pirro G and Khor, Chiea-Chuen and Loomis, Stephanie J and Bailey, Jessica N Cooke and Gibson, Jane and Thorleifsson, Gudmar and Janssen, Sarah F and Luo, Xiaoyan and Ramdas, Wishal D and Vithana, Eranga and Nongpiur, Monisha E and Montgomery, Grant W and Xu, Liang and Mountain, Jenny E and Gharahkhani, Puya and Lu, Yi and Amin, Najaf and Karssen, Lennart C and Sim, Kar-Seng and van Leeuwen, Elisabeth M and Iglesias, Adriana I and Verhoeven, Virginie J M and Hauser, Michael A and Loon, Seng-Chee and Despriet, Dominiek D G and Nag, Abhishek and Venturini, Cristina and Sanfilippo, Paul G and Schillert, Arne and Kang, Jae H and Landers, John and Jonasson, Fridbert and Cree, Angela J and van Koolwijk, Leonieke M E and Rivadeneira, Fernando and Souzeau, Emmanuelle and Jonsson, Vesteinn and Menon, Geeta and Blue Mountains Eye Study{\textemdash}GWAS group and Weinreb, Robert N and de Jong, Paulus T V M and Oostra, Ben A and Uitterlinden, Andr{\'e} G and Hofman, Albert and Ennis, Sarah and Thorsteinsdottir, Unnur and Burdon, Kathryn P and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consortium 2 (WTCCC2) and Spector, Timothy D and Mirshahi, Alireza and Saw, Seang-Mei and Vingerling, Johannes R and Teo, Yik-Ying and Haines, Jonathan L and Wolfs, Roger C W and Lemij, Hans G and Tai, E-Shyong and Jansonius, Nomdo M and Jonas, Jost B and Cheng, Ching-Yu and Aung, Tin and Viswanathan, Ananth C and Klaver, Caroline C W and Craig, Jamie E and Macgregor, Stuart and Mackey, David A and Lotery, Andrew J and Stefansson, Kari and Bergen, Arthur A B and Young, Terri L and Wiggs, Janey L and Pfeiffer, Norbert and Wong, Tien-Yin and Pasquale, Louis R and Hewitt, Alex W and van Duijn, Cornelia M and Hammond, Christopher J and Blue Mountains Eye Study-GWAS group and NEIGHBORHOOD Consortium and Wellcome Trust Case Control Consortium 2 WTCCC2} }