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- Title
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
- Authors
Lu, Yi; Vitart, Veronique; Burdon, Kathryn P; Khor, Chiea Chuen; Bykhovskaya, Yelena; Mirshahi, Alireza; Hewitt, Alex W; Koehn, Demelza; Hysi, Pirro G; Ramdas, Wishal D; Zeller, Tanja; Vithana, Eranga N; Cornes, Belinda K; Tay, Wan-Ting; Tai, E Shyong; Cheng, Ching-Yu; Liu, Jianjun; Foo, Jia-Nee; Saw, Seang Mei; Thorleifsson, Gudmar
- 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 (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.
- Subjects
CORNEA physiology; GENOMES; CORNEA measurement; KERATOCONUS; GLAUCOMA; EXTRACELLULAR matrix; COLLAGEN
- Publication
Nature Genetics, 2013, Vol 45, Issue 2, p155
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.2506