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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.

Original publication

DOI

10.1038/ng.2506

Type

Journal article

Journal

Nature genetics

Publication Date

02/2013

Volume

45

Pages

155 - 163

Addresses

Queensland Institute of Medical Research, Statistical Genetics, Herston, Brisbane, Queensland, Australia.

Keywords

NEIGHBOR Consortium, Cornea, Humans, Keratoconus, Glaucoma, Fibronectins, Microarray Analysis, Odds Ratio, Asian Continental Ancestry Group, European Continental Ancestry Group, Forkhead Transcription Factors, Genome-Wide Association Study, Genetic Loci, Real-Time Polymerase Chain Reaction, Corneal Pachymetry, Forkhead Box Protein O1