eCite Digital Repository

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


Lu, Y and Vitart, V and Burdon, KP and Khor, CC and Bykhovskaya, Y and Mirshahi, A and Hewitt, AW and Koehn, D and Hysi, PG and Ramdas, WD and Zeller, T and Vithana, EN and Cornes, BK and Tay, WT and Tai, ES and Cheng, CY and Liu, J and Foo, JN and Saw, SM and Thorleifsson, G and Stefansson, K and Dimasi, DP and Mills, RA and Mountain, J and Ang, W and Hoehn, R and Verhoeven, VJ and Grus, F and Wolfs, R and Castagne, R and Lackner, KJ and Springelkamp, H and Yang, J and Jonasson, F and Leung, DY and Chen, LJ and Tham, CC and Rudan, I and Vatavuk, Z and Hayward, C and Gibson, J and Cree, AJ and MacLeod, A and Ennis, S and Polasek, O and Campbell, H and Wilson, JF and Viswanathan, AC and Fleck, B and Li, X and Siscovick, D and Taylor, KD and Rotter, JI and Yazar, S and Ulmer, M and Li, J and Yaspan, BL and Ozel, AB and Richards, JE and Moroi, SE and Haines, JL and Kang, JH and Pasquale, LR and Allingham, RR and Ashley-Koch, A and Mitchell, P and Wang, JJ and Wright, AF and Pennell, C and Spector, TD and Young, TL and Klaver, CC and Martin, NG and Montgomery, GW and Anderson, MG and Aung, T and Willoughby, CE and Wiggs, JL and Pang, CP and Thorsteinsdottir, U and Lotery, AJ and Hammond, CJ and van Duijn, CM and Hauser, MA and Rabinowitz, YS and Pfeiffer, N and Mackey, DA and Craig, JE and Macgregor, S and Wong, TY, NEIGHBOR Consortium, Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus, Nature Genetics, 45, (2) pp. 155-163. ISSN 1061-4036 (2013) [Refereed Article]

Restricted - Request a copy

Copyright Statement

Copyright 2013 National Institutes of Health Public Access

DOI: doi:10.1038/ng.2506


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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:90358
Year Published:2013
Web of Science® Times Cited:220
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-04-01
Last Modified:2017-11-06

Repository Staff Only: item control page