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

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  • Yi Lu
  • Veronique Vitart
  • Kathryn P Burdon
  • Chiea Chuen Khor
  • Yelena Bykhovskaya
  • Alireza Mirshahi
  • Alex W Hewitt
  • Demelza Koehn
  • Pirro G Hysi
  • Wishal D Ramdas
  • Tanja Zeller
  • Eranga N Vithana
  • Belinda K Cornes
  • Wan-Ting Tay
  • E Shyong Tai
  • Ching-Yu Cheng
  • Jianjun Liu
  • Jia-Nee Foo
  • Seang Mei Saw
  • Gudmar Thorleifsson
  • Kari Stefansson
  • David P Dimasi
  • Richard A Mills
  • Jenny Mountain
  • Wei Ang
  • René Hoehn
  • Virginie J M Verhoeven
  • Franz Grus
  • Roger Wolfs
  • Raphaële Castagne
  • Karl J Lackner
  • Henriët Springelkamp
  • Jian Yang
  • Fridbert Jonasson
  • Dexter Y L Leung
  • Li J Chen
  • Clement C Y Tham
  • Igor Rudan
  • Zoran Vatavuk
  • Caroline Hayward
  • Jane Gibson
  • Angela J Cree
  • Alex Macleod
  • Sarah Ennis
  • Ozren Polasek
  • Harry Campbell
  • James F Wilson
  • Ananth C Viswanathan
  • Brian Fleck
  • Alan F Wright
  • NEIGHBOR Consortium

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    Rights statement: Published in final edited form as: Nat Genet. Feb 2013; 45(2): 155–163. Published online Jan 6, 2013. doi: 10.1038/ng.2506

    Accepted author manuscript, 1 MB, PDF-document

http://www.nature.com/ng/journal/v45/n2/full/ng.2506.html
Original languageEnglish
Pages (from-to)155-163
Number of pages9
JournalNature Genetics
Volume45
Issue number2
Early online date6 Jan 2013
DOIs
Publication statusPublished - Feb 2013

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.

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