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

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, Stefansson, Kari, Dimasi, David P., Mills, Richard A., Mountain, Jenny, Ang, Wei, Hoehn, Rene, Verhoeven, Virginie J. M., Grus, Franz, Wolfs, Roger, Castagne, Raphaele, Lackner, Karl J., Springelkamp, Henriet, Yang, Jian, Jonasson, Fridbert, Leung, Dexter Y. L., Chen, Li J., Tham, Clement C. Y., Rudan, Igor, Vatavuk, Zoran, Hayward, Caroline, Gibson, Jane, Cree, Angela J., MacLeod, Alex, Ennis, Sarah, Polasek, Ozren, Campbell, Harry, Wilson, James F., Viswanathan, Ananth C., Fleck, Brian, Li, Xiaohui, Siscovick, David, Taylor, Kent D., Rotter, Jerome I., Yazar, Seyhan, Ulmer, Megan, Li, Jun, Yaspan, Brian L., Ozel, Ayse B., Richards, Julia E., Moroi, Sayoko E., Haines, Jonathan L., Kang, Jae H., Pasquale, Louis R., Allingham, R. Rand, Ashley-Koch, Allison, NEIGHBOR Consortium, Mitchell, Paul, Wang, Jie Jin, Wright, Alan F., Pennell, Craig, Spector, Timothy D., Young, Terri L., Klaver, Caroline C. W., Martin, Nicholas G., Montgomery, Grant W., Anderson, Michael G., Aung, Tin, Willoughby, Colin E., Wiggs, Janey L., Pang, Chi P., Thorsteinsdottir, Unnur, Lotery, Andrew J., Hammond, Christopher J., van Duijn, Cornelia M., Hauser, Michael A., Rabinowitz, Yaron S., Pfeiffer, Norbert, Mackey, David A., Craig, Jamie E., Macgregor, Stuart and Wong, Tien 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


Author 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
Stefansson, Kari
Dimasi, David P.
Mills, Richard A.
Mountain, Jenny
Ang, Wei
Hoehn, Rene
Verhoeven, Virginie J. M.
Grus, Franz
Wolfs, Roger
Castagne, Raphaele
Lackner, Karl J.
Springelkamp, Henriet
Yang, Jian
Jonasson, Fridbert
Leung, Dexter Y. L.
Chen, Li J.
Tham, Clement C. Y.
Rudan, Igor
Vatavuk, Zoran
Hayward, Caroline
Gibson, Jane
Cree, Angela J.
MacLeod, Alex
Ennis, Sarah
Polasek, Ozren
Campbell, Harry
Wilson, James F.
Viswanathan, Ananth C.
Fleck, Brian
Li, Xiaohui
Siscovick, David
Taylor, Kent D.
Rotter, Jerome I.
Yazar, Seyhan
Ulmer, Megan
Li, Jun
Yaspan, Brian L.
Ozel, Ayse B.
Richards, Julia E.
Moroi, Sayoko E.
Haines, Jonathan L.
Kang, Jae H.
Pasquale, Louis R.
Allingham, R. Rand
Ashley-Koch, Allison
NEIGHBOR Consortium
Mitchell, Paul
Wang, Jie Jin
Wright, Alan F.
Pennell, Craig
Spector, Timothy D.
Young, Terri L.
Klaver, Caroline C. W.
Martin, Nicholas G.
Montgomery, Grant W.
Anderson, Michael G.
Aung, Tin
Willoughby, Colin E.
Wiggs, Janey L.
Pang, Chi P.
Thorsteinsdottir, Unnur
Lotery, Andrew J.
Hammond, Christopher J.
van Duijn, Cornelia M.
Hauser, Michael A.
Rabinowitz, Yaron S.
Pfeiffer, Norbert
Mackey, David A.
Craig, Jamie E.
Macgregor, Stuart
Wong, Tien Y.
Total Author Count Override 91
Title Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1061-4036
1546-1718
Publication date 2013-02
Year available 2013
Sub-type Article (original research)
DOI 10.1038/ng.2506
Volume 45
Issue 2
Start page 155
End page 163
Total pages 9
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Collection year 2014
Language eng
Formatted 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.
Keyword Open Angle Glaucoma
Osteogenesis Imperfecta
Ocular Hypertension
Asian Populations
Common Variants
Blue Sclera
Gene
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Queensland Brain Institute Publications
Official 2014 Collection
UQ Diamantina Institute Publications
 
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