Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

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 DemirkanSven 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

Research output: Contribution to journalArticleResearchpeer-review


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.

Original languageEnglish
Pages (from-to)207-16
Number of pages10
JournalGenetic Epidemiology
Issue number3
Publication statusPublished - Mar 2015


  • Asian Continental Ancestry Group/genetics
  • European Continental Ancestry Group/genetics
  • Genome-Wide Association Study
  • Glaucoma/ethnology
  • Humans
  • Optic Disk/pathology
  • Optic Nerve Diseases/ethnology
  • Quantitative Trait Loci/genetics


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