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Abstract #52658 Published in IGR 15-1
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
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 WT; Tai ES; Cheng CY; Liu J; Foo JN; Saw SM; Thorleifsson G; Stefansson K; Dimasi DP; Mills RA; Mountain J; Ang WNature Genetics 2013; 45: 155-163
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.
Queensland Institute of Medical Research, Statistical Genetics, Herston, Brisbane, Queensland, Australia.
Full articleClassification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
2.2 Cornea (Part of: 2 Anatomical structures in glaucoma)
