TY - JOUR
T1 - Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
AU - Blue Mountains Eye Study-GWAS groupw
AU - NEIGHBORHOOD Consortiumz
AU - Wellcome Trust Case Control Consortium 2 (WTCCC2)
AU - Data and Analysis Group
AU - DNA, Genotyping, Data QC and Informatics Group
AU - Publications Committee
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 - Mitchell, Paul
AU - Wang, Jie Jin
AU - Rochtchina, Elena
AU - Attia, John
AU - Scott, Rodney
AU - Holliday, Elizabeth G.
AU - Baird, Paul N.
AU - Xie, Jing
AU - Zack, Donald J.
N1 - Publisher Copyright:
© 2014 Macmillan Publishers Limited. All rights reserved.
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.
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U2 - 10.1038/ncomms5883
DO - 10.1038/ncomms5883
M3 - Article
C2 - 25241763
AN - SCOPUS:84921682483
SN - 2041-1723
VL - 5
JO - Nature communications
JF - Nature communications
M1 - 4883
ER -