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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • 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

Published Date

  • February 2013

Published In

Volume / Issue

  • 45 / 2

Start / End Page

  • 155 - 163

PubMed ID

  • 23291589

Pubmed Central ID

  • PMC3720123

Electronic International Standard Serial Number (EISSN)

  • 1546-1718

Digital Object Identifier (DOI)

  • 10.1038/ng.2506


  • eng

Conference Location

  • United States