Journal article
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Henriet Springelkamp, Rene Hoehn, Aniket Mishra, Pirro G Hysi, Chiea-Chuen Khor, Stephanie J Loomis, Jessica N Cooke Bailey, Jane Gibson, Gudmar Thorleifsson, Sarah F Janssen, Xiaoyan Luo, Wishal D Ramdas, Eranga Vithana, Monisha E Nongpiur, GrantW Montgomery, Liang Xu, Jenny E Mountain, Puya Gharahkhani, Yi Lu, Najaf Amin Show all
NATURE COMMUNICATIONS | NATURE PUBLISHING GROUP | Published : 2014
DOI: 10.1038/ncomms5883
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..
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