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Meta-analysis of genome-wide association studies identifies novel loci associated with optic disc morphology


Springelkamp, H and Mishra, A and Hysi, PG and Gharahkhani, P and Hohn, R and Khor, CC and Cooke Bailey, JN and Luo, X and Ramdas, WD and Vithana, E and Koh, V and Yazar, S and Xu, L and Forward, H and Kearns, LS and Amin, N and Iglesias, AI and Sim, K and van Leeuwen, EM and Demirkan, A and van der Lee, S and Loon, SC and Rivadeneira, F and Nag, A and Sanfilippo, PG and Schillert, A and de Jong, PTVM and Oostra, BA and Uitterlinden, AG and Hofman, A and Zhou, T and Burdon, KP and Spector, TD and Lackner, KJ and Saw, S and Vingerling, JR and Teo, YY and Pasquale, LR and Wolfs, RCW and Lemij, HG and Tai, ES and Jonas, JB and Cheng, CY and Aung, T and Jansonius, NM and Klaver, CCW and Craig, JE and Young, TL and Haines, JL and MacGregor, S and Mackey, DA and Pfeiffer, N and Wong, TY and Wiggs, JL and Hewitt, AW and van Duijn, CM and Hammond, CJ, NEIGHBORHOOD Consortium, Meta-analysis of genome-wide association studies identifies novel loci associated with optic disc morphology, Genetic Epidemiology, 39, (3) pp. 207-216. ISSN 0741-0395 (2015) [Refereed Article]

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DOI: doi:10.1002/gepi.21886


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.

Item Details

Item Type:Refereed Article
Keywords:GWAS, disc area, cup area, glaucoma, genetics, risk factors
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Mackey, DA (Professor David Mackey)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:99166
Year Published:2015
Web of Science® Times Cited:55
Deposited By:Menzies Institute for Medical Research
Deposited On:2015-03-16
Last Modified:2017-11-06
Downloads:1 View Download Statistics

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