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

Hanriët Springelkamp, Aniket Mishra, Pirro Hysi, Puya Gharahkhani, Rene Hohn, Chiea-Chuen Khor, Jessica Bailey Cooke, Xiaoyan Luo, Wishal Ramdas, Eranga Vithana, Victor Koh, Seyhan Yazar, Liang Xu, Hannah Forward, Lisa Kearns, Najaf Amin, Adriana Iglesias, Kar-Seng Sim, Elisabeth Van Leeuwen, Ayse DemirkanSven Van Der Lee, Seng-Chee Loon, Fernando Rivadeneira, Abhishek Nag, Paul Sanfilippo, Arne Schillert, Paulus De Jong, Ben Oostra, André Uitterlinden, Albert Hofman, Tiger Zhou, Kathryn Burdon, Tim Spector, Karl Lackner, Seang-Mei Saw, Johannes Vingerling, Yik-Ying Teo, Louis Pasquale, Roger Wolfs, Hans Lemij, E-Shyong Tai, Jost Jonas, Ching-Yu Cheng, Tin Aung, Nomdo Jansonius, Caroline Klaver, Jamie Craig, Terri Young, Jonathan Haines, Stuart Macgregor, David Mackey, Norbert Pfeiffer, Tien-Yin Wong, Janey Wiggs, Alex Hewitt, Cornelia van Duijn, Christopher Hammond

Research output: Contribution to journalArticlepeer-review

59 Citations (Scopus)


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)207-216
Number of pages10
Issue number3
Publication statusPublished - 1 Mar 2015


  • Cup area
  • Disc area
  • Glaucoma
  • GWAS


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