2013-02-01
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
Publication
Publication
Nature Genetics , Volume 45 - Issue 2 p. 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.
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| doi.org/10.1038/ng.2506, hdl.handle.net/1765/56690 | |
| Nature Genetics | |
| Organisation | Erasmus MC: University Medical Center Rotterdam |
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Lu, Y., Vitart, V., Burdon, K., Khor, C. C., Bykhovskaya, Y., Mirshahi, A., … Wong, T. Y. (2013). Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nature Genetics, 45(2), 155–163. doi:10.1038/ng.2506 |
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