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

Overview of attention for article published in Nature Communications, September 2014
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Title
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Published in
Nature Communications, September 2014
DOI 10.1038/ncomms5883
Pubmed ID
Authors

Henriët. Springelkamp, René Höhn, 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, Grant W. Montgomery, Liang Xu, Jenny E. Mountain, Puya Gharahkhani, Yi Lu, Najaf Amin, Lennart C. Karssen, Kar-Seng Sim, Elisabeth M. van Leeuwen, Adriana I. Iglesias, Virginie J. M. Verhoeven, Michael A. Hauser, Seng-Chee Loon, Dominiek D. G. Despriet, Abhishek Nag, Cristina Venturini, Paul G. Sanfilippo, Arne Schillert, Jae H. Kang, John Landers, Fridbert Jonasson, Angela J. Cree, Leonieke M. E. van Koolwijk, Fernando Rivadeneira, Emmanuelle Souzeau, Vesteinn Jonsson, Geeta Menon, Robert N. Weinreb, Paulus T. V. M. de Jong, Ben A. Oostra, André G. Uitterlinden, Albert Hofman, Sarah Ennis, Unnur Thorsteinsdottir, Kathryn P. Burdon, Timothy D. Spector, Alireza Mirshahi, Seang-Mei Saw, Johannes R. Vingerling, Yik-Ying Teo, Jonathan L. Haines, Roger C. W. Wolfs, Hans G. Lemij, E-Shyong Tai, Nomdo M. Jansonius, Jost B. Jonas, Ching-Yu Cheng, Tin Aung, Ananth C. Viswanathan, Caroline C. W. Klaver, Jamie E. Craig, Stuart Macgregor, David A. Mackey, Andrew J. Lotery, Kari Stefansson, Arthur A. B. Bergen, Terri L. Young, Janey L. Wiggs, Norbert Pfeiffer, Tien-Yin Wong, Louis R. Pasquale, Alex W. Hewitt, Cornelia M. van Duijn, Christopher J. Hammond

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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Mendeley readers

The data shown below were compiled from readership statistics for 128 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Netherlands 1 <1%
United States 1 <1%
Australia 1 <1%
Unknown 125 98%

Demographic breakdown

Readers by professional status Count As %
Professor 24 19%
Researcher 19 15%
Student > Ph. D. Student 13 10%
Other 11 9%
Student > Postgraduate 8 6%
Other 27 21%
Unknown 26 20%
Readers by discipline Count As %
Medicine and Dentistry 44 34%
Biochemistry, Genetics and Molecular Biology 22 17%
Agricultural and Biological Sciences 14 11%
Neuroscience 5 4%
Psychology 3 2%
Other 10 8%
Unknown 30 23%