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

Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma.

Authors:
Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, … Mountain J, et al.

Authors notes:
Nature Genetics. 2013;45(2):155-163

Keywords:
central corneal thickness, eye conditions, genome-wide association, glaucoma

Abstract:
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.

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.

FNDC3B was also associated with primary open-angle glaucoma.

Further analyses implicate the collagen and extracellular matrix pathways in the regulation of CCT.