Meta‐analysis of Genome‐Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology
Year: 2015
Type: article
Abstract: Primary open-angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or optic disc is divided in two parts: a central cup (without nerve fibers) surrounded by the neuroretinal rim (containing axons of the retinal ganglion cells). The International Glaucoma Genetics Consortium conducted a meta-analysis of genome-wide association studies consisting of 17,248 individuals of European ancestry and 6,841 individuals of Asian ancestry. The outcomes of the genome-wide association studies were disc area and cup area. These specific measurements describe optic nerve morphology in another way than the vertical cup-disc ratio, which is a clinically used measurement, and may shed light on new glaucoma mechanisms. We identified 10 new loci associated with disc area (CDC42BPA, F5, DIRC3, RARB, ABI3BP, DCAF4L2, ELP4, TMTC2, NR2F2, and HORMAD2) and another 10 new loci associated with cup area (DHRS3, TRIB2, EFEMP1, FLNB, FAM101, DDHD1, ASB7, KPNB1, BCAS3, and TRIOBP). The new genes participate in a number of pathways and future work is likely to identify more functions related to the pathogenesis of glaucoma.
Source: Genetic Epidemiology
DOI: 10.1002/gepi.21886
Authors: Henriët Springelkamp, Aniket Mishra, Pirro G. Hysi, Puya Gharahkhani, René Höhn, Chiea‐Chuen Khor, Jessica N. Cooke Bailey, Xiaoyan Luo, Wishal D. Ramdas, Eranga Vithana, Victor Koh, Seyhan Yazar, Liang Xu, Hannah Forward, Lisa S. Kearns, Najaf Amin, Adriana I. Iglesias, Kar‐Seng Sim, Elisabeth M. van Leeuwen, Ayse Demirkan, Sven van der Lee, Seng‐Chee Loon, Fernando Rivadeneira, Abhishek Nag, Paul G. Sanfilippo, Arne Schillert, Paulus T. V. M. de Jong, Ben A. Oostra, André G. Uitterlinden, Albert Hofman, Tiger Zhou, Kathryn P. Burdon, Timothy D. Spector, Karl J. Lackner, Seang‐Mei Saw, Johannes R. Vingerling, Yik‐Ying Teo, Louis R. Pasquale, Roger C. W. Wolfs, Hans G. Lemij, E‐Shyong Tai, Jost B. Jonas, Ching‐Yu Cheng, Tin Aung, Nomdo M. Jansonius, Caroline C. W. Klaver, Jamie E. Craig, Terri L. Young, Jonathan L. Haines, Stuart MacGregor, David A. Mackey, Norbert Pfeiffer, Tien‐Yin Wong, Janey L. Wiggs, Alex W. Hewitt, Cornelia M. van Duijn, Christopher J. Hammond
Institutions: Erasmus MC, QIMR Berghofer Medical Research Institute, King's College London, University Medical Center of the Johannes Gutenberg University Mainz, National University of Singapore, National University Health System, Genome Institute of Singapore, Case Western Reserve University, Duke University, Singapore National Eye Center, Singapore Eye Research Institute, Duke-NUS Medical School, Lions Eye Institute, The University of Western Australia, Beijing Tongren Hospital, Capital Medical University, The University of Melbourne, The Royal Victorian Eye & Ear Hospital, Centre for Eye Research Australia, Leiden University Medical Center, Netherlands Consortium for Healthy Ageing, German Centre for Cardiovascular Research, University of Lübeck, Netherlands Institute for Neuroscience, Amsterdam UMC Location University of Amsterdam, Flinders University, University of Tasmania, Menzies Institute for Medical Research, Brigham and Women's Hospital, Massachusetts Eye and Ear Infirmary, Harvard University, Rotterdam Eye Hospital, Heidelberg University, Medizinische Fakultät Mannheim, University Medical Center Groningen, University of Groningen
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: bronze
Awards: Dual Leucine Zipper Kinase (DLK) as a Mediator of Retinal Ganglion Cell Injury, Gene-Environment Interactions in Glaucoma, Visual Neurons--Development and Regeneration In Vitro, An examination of the genetic epidemiology of common eye diseases, searching for genes involved in the aetiology of myopia, cataract, and glaucoma, and ocular biomarkers of aging., NIHR Senior Investigator Award, Genomes in Eye Disease: Methods to Query Variants Across Multiple Genome-wide Dat, P30 Core Grant for Vision Research, NEIGHBORHOOD Consortium for POAG Genetics, Novel Glaucoma Diagnostics for Structure and Function.
OpenAlex ID: W2132846716