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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Springelkamp, H; Höhn, R; Mishra, A; Hysi, PG; Khor, C-C; Loomis, SJ; Bailey, JNC; Gibson, J; Thorleifsson, G; Janssen, SF; Luo, X; Ramdas, WD; Vithana, E; Nongpiur, ME; Montgomery, GW; Xu, L; Mountain, JE; Gharahkhani, P; Lu, Y; Amin, N; Karssen, LC; Sim, K-S; van Leeuwen, EM; Iglesias, AI; Verhoeven, VJM; Hauser, MA; Loon, S-C; Despriet, DDG; Nag, A; Venturini, C; Sanfilippo, PG; Schillert, A; Kang, JH; Landers, J; Jonasson, F; Cree, AJ; van Koolwijk, LME; Rivadeneira, F; Souzeau, E; Jonsson, V; Menon, G; Blue Mountains Eye Study—GWAS group, ; Weinreb, RN; de Jong, PTVM; Oostra, BA; Uitterlinden, AG; Hofman, A; Ennis, S; Thorsteinsdottir, U; Burdon, KP; NEIGHBORHOOD Consortium, ; Wellcome Trust Case Control Consortium 2 (WTCCC2), ; Spector, TD; Mirshahi, A; Saw, S-M; Vingerling, JR; Teo, Y-Y; Haines, JL; Wolfs, RCW; Lemij, HG; Tai, E-S; Jansonius, NM; Jonas, JB; Cheng, C-Y; Aung, T; Viswanathan, AC; Klaver, CCW; Craig, JE; Macgregor, S; Mackey, DA; Lotery, AJ; Stefansson, K; Bergen, AAB; Young, TL; Wiggs, JL; Pfeiffer, N; Wong, T-Y; Pasquale, LR; Hewitt, AW; van Duijn, CM; Hammond, CJ

Published Date

  • September 22, 2014

Published In

Volume / Issue

  • 5 /

Start / End Page

  • 4883 -

PubMed ID

  • 25241763

Pubmed Central ID

  • PMC4199103

Electronic International Standard Serial Number (EISSN)

  • 2041-1723

Digital Object Identifier (DOI)

  • 10.1038/ncomms5883


  • eng

Conference Location

  • England