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Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Publication ,  Journal Article
Lu, Y; Vitart, V; Burdon, KP; Khor, CC; Bykhovskaya, Y; Mirshahi, A; Hewitt, AW; Koehn, D; Hysi, PG; Ramdas, WD; Zeller, T; Vithana, EN ...
Published in: Nat Genet
February 2013
Published version (DOI) Link to item

Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian populations that identified 16 new loci associated with CCT at genome-wide significance (P < 5 × 10(-8)). We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)). FNDC3B was also associated with primary open-angle glaucoma (P = 5.6 × 10(-4); tested in 3 cohorts with 2,979 cases and 7,399 controls). Further analyses implicate the collagen and extracellular matrix pathways in the regulation of CCT.

Duke Scholars

Yutao Liu
Author Yutao Liu Medicine, Medical Genetics
Allison Elizabeth Ashley-Koch
Author Allison Elizabeth Ashley-Koch Medicine, Nephrology
Terri Lois Young
Author Terri Lois Young Ophthalmology
Michael Arthur Hauser
Author Michael Arthur Hauser Medicine, Medical Genetics
Tien Yin Wong
Author Tien Yin Wong Ophthalmology
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Published In

Nat Genet

DOI

10.1038/ng.2506

EISSN

1546-1718

Publication Date

February 2013

Volume

45

Issue

2

Start / End Page

155 / 163

Location

United States

Related Subject Headings

  • White People
  • Real-Time Polymerase Chain Reaction
  • Odds Ratio
  • Microarray Analysis
  • Keratoconus
  • Humans
  • Glaucoma
  • Genome-Wide Association Study
  • Genetic Loci
  • Forkhead Transcription Factors
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Lu, Y., Vitart, V., Burdon, K. P., Khor, C. C., Bykhovskaya, Y., Mirshahi, A., … Wong, T. Y. (2013). Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet, 45(2), 155–163. https://doi.org/10.1038/ng.2506
Lu, Yi, Veronique Vitart, Kathryn P. Burdon, Chiea Chuen Khor, Yelena Bykhovskaya, Alireza Mirshahi, Alex W. Hewitt, et al. “Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.” Nat Genet 45, no. 2 (February 2013): 155–63. https://doi.org/10.1038/ng.2506.
Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, et al. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet. 2013 Feb;45(2):155–63.
Lu, Yi, et al. “Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.” Nat Genet, vol. 45, no. 2, Feb. 2013, pp. 155–63. Pubmed, doi:10.1038/ng.2506.
Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN, Cornes BK, Tay W-T, Tai ES, Cheng C-Y, Liu J, Foo J-N, Saw SM, Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang W, Hoehn R, Verhoeven VJM, Grus F, Wolfs R, Castagne R, Lackner KJ, Springelkamp H, Yang J, Jonasson F, Leung DYL, Chen LJ, Tham CCY, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X, Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale LR, Allingham RR, Ashley-Koch A, NEIGHBOR Consortium, Mitchell P, Wang JJ, Wright AF, Pennell C, Spector TD, Young TL, Klaver CCW, Martin NG, Montgomery GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP, Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S, Wong TY. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet. 2013 Feb;45(2):155–163.

Published In

Nat Genet

DOI

10.1038/ng.2506

EISSN

1546-1718

Publication Date

February 2013

Volume

45

Issue

2

Start / End Page

155 / 163

Location

United States

Related Subject Headings

  • White People
  • Real-Time Polymerase Chain Reaction
  • Odds Ratio
  • Microarray Analysis
  • Keratoconus
  • Humans
  • Glaucoma
  • Genome-Wide Association Study
  • Genetic Loci
  • Forkhead Transcription Factors