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

Citation:

Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor C-C, Loomis SJ, Bailey JCN, 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, Menon G, Weinreb RN, de Jong PTVM, Oostra BA, Uitterlinden AG, Hofman A, Ennis S, Thorsteinsdottir U, Burdon KP, Burdon KP, Burdon KP, 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, Hammond CJ, Hammond CJ, Hammond CJ. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun 2014;5:4883.

Date Published:

2014

Abstract:

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.

Last updated on 11/11/2018