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

Publication ,  Journal Article
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 ...
Published in: Nat Commun
September 22, 2014

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.

Duke Scholars

Published In

Nat Commun

DOI

EISSN

2041-1723

Publication Date

September 22, 2014

Volume

5

Start / End Page

4883

Location

England

Related Subject Headings

  • White People
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Optic Nerve
  • Optic Disk
  • Humans
  • Glaucoma
  • Genotype
  • Genome-Wide Association Study
  • Gene Frequency
 

Citation

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Chicago
ICMJE
MLA
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Springelkamp, H., Höhn, R., Mishra, A., Hysi, P. G., Khor, C.-C., Loomis, S. J., … Hammond, C. J. (2014). Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun, 5, 4883. https://doi.org/10.1038/ncomms5883
Springelkamp, Henriët, René Höhn, Aniket Mishra, Pirro G. Hysi, Chiea-Chuen Khor, Stephanie J. Loomis, Jessica N Cooke Bailey, et al. “Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.Nat Commun 5 (September 22, 2014): 4883. https://doi.org/10.1038/ncomms5883.
Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor C-C, Loomis SJ, et al. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 2014 Sep 22;5:4883.
Springelkamp, Henriët, et al. “Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.Nat Commun, vol. 5, Sept. 2014, p. 4883. Pubmed, doi:10.1038/ncomms5883.
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. Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. Nat Commun. 2014 Sep 22;5:4883.

Published In

Nat Commun

DOI

EISSN

2041-1723

Publication Date

September 22, 2014

Volume

5

Start / End Page

4883

Location

England

Related Subject Headings

  • White People
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Optic Nerve
  • Optic Disk
  • Humans
  • Glaucoma
  • Genotype
  • Genome-Wide Association Study
  • Gene Frequency