TY - JOUR
T1 - Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
AU - AUTHOR GROUP
AU - Springelkamp, Henriët
AU - Höhn, René
AU - Mishra, Aniket
AU - Hysi, Pirro G.
AU - Khor, Chiea-Chuen
AU - Loomis, Stephanie J.
AU - Bailey, Jessica N. Cooke
AU - Gibson, Jane
AU - Thorleifsson, Gudmar
AU - Janssen, Sarah F.
AU - Luo, Xiaoyan
AU - Ramdas, Wishal D.
AU - Vithana, Eranga
AU - Nongpiur, Monisha E.
AU - Montgomery, Grant W.
AU - Xu, Liang
AU - Mountain, Jenny E.
AU - Gharahkhani, Puya
AU - Lu, Yi
AU - Amin, Najaf
AU - Karssen, Lennart C.
AU - Sim, Kar-Seng
AU - van Leeuwen, Elisabeth M.
AU - Iglesias, Adriana I.
AU - Verhoeven, Virginie J. M.
AU - Hauser, Michael A.
AU - Loon, Seng-Chee
AU - Despriet, Dominiek D. G.
AU - Nag, Abhishek
AU - Venturini, Cristina
AU - Sanfilippo, Paul G.
AU - Schillert, Arne
AU - Kang, Jae H.
AU - Landers, John
AU - Jonasson, Fridbert
AU - Cree, Angela J.
AU - van Koolwijk, Leonieke M. E.
AU - Rivadeneira, Fernando
AU - Souzeau, Emmanuelle
AU - Jonsson, Vesteinn
AU - Menon, Geeta
AU - Weinreb, Robert N.
AU - de Jong, Paulus T. V. M.
AU - Oostra, Ben A.
AU - Uitterlinden, André G.
AU - Hofman, Albert
AU - Ennis, Sarah
AU - Thorsteinsdottir, Unnur
AU - Burdon, Kathryn P.
AU - Bergen, Arthur A. B.
PY - 2014
Y1 - 2014
N2 - 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
AB - 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
U2 - https://doi.org/10.1038/ncomms5883
DO - https://doi.org/10.1038/ncomms5883
M3 - Article
C2 - 25241763
SN - 2041-1723
VL - 5
SP - 4883
JO - Nature communications
JF - Nature communications
ER -