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

Autor: Ananth C. Viswanathan, Jian Yang, Ozren Polasek, Paul Mitchell, James F. Wilson, Caroline Hayward, Unnur Thorsteinsdottir, Colin E. Willoughby, Kathryn P. Burdon, Grant W. Montgomery, Wishal D. Ramdas, Jie Jin Wang, Ching-Yu Cheng, Michael G. Anderson, Richard A. Mills, Roger C. W. Wolfs, Veronique Vitart, Jae H. Kang, Jianjun Liu, Alireza Mirshahi, David A. Mackey, Brian W Fleck, Terri L. Young, Yaron S. Rabinowitz, Eranga N. Vithana, Jamie E Craig, Kent D. Taylor, Zoran Vatavuk, Jenny Mountain, Clement C Y Tham, Caroline C W Klaver, Tin Aung, Allison E. Ashley-Koch, Alan F. Wright, Alex MacLeod, Tanja Zeller, Sarah Ennis, Nicholas G. Martin, David S. Siscovick, Sayoko E. Moroi, Li J. Chen, David P. Dimasi, Yelena Bykhovskaya, Kari Stefansson, Yi Lu, Seyhan Yazar, Pirro G. Hysi, Angela J. Cree, Louis R. Pasquale, Wei Ang, Ayse Bilge Ozel, Megan Ulmer, Stuart MacGregor, Janey L. Wiggs, Dexter Y L Leung, Harry Campbell, Jonathan L. Haines, Cornelia M. van Duijn, Igor Rudan, Tim D. Spector, René Hoehn, E. Shyong Tai, Wan Ting Tay, Michael A. Hauser, Jun Li, Craig E. Pennell, Henriët Springelkamp, Karl J. Lackner, Tien Yin Wong, Jane Gibson, Norbert Pfeiffer, Seang-Mei Saw, Virginie J. M. Verhoeven, Gudmar Thorleifsson, R. Rand Allingham, Julia E. Richards, Jia Nee Foo, Raphaële Castagné, Christopher J Hammond, Fridbert Jonasson, Belinda K. Cornes, Andrew J. Lotery, Brian L. Yaspan, Franz H. Grus, Chi P. Pang, Chiea Chuen Khor, Jerome I. Rotter, Xiaohui Li, Demelza Koehn, Alex W. Hewitt
Přispěvatelé: Ophthalmology, Epidemiology, Obstetrics & Gynecology
Jazyk: angličtina
Rok vydání: 2013
Předmět:
Zdroj: Lu, Y, Vitart, V, Burdon, K P, Khor, C C, Bykhovskaya, Y, Mirshahi, A, Hewitt, A W, Koehn, D, Hysi, P G, Ramdas, W D, Zeller, T, Vithana, E N, Cornes, B K, Tay, W-T, Tai, E S, Cheng, C-Y, Liu, J, Foo, J-N, Saw, S M, Thorleifsson, G, Stefansson, K, Dimasi, D P, Mills, R A, Mountain, J, Ang, W, Hoehn, R, Verhoeven, V J M, Grus, F, Wolfs, R, Castagne, R, Lackner, K J, Springelkamp, H, Yang, J, Jonasson, F, Leung, D Y L, Chen, L J, Tham, C C Y, Rudan, I, Vatavuk, Z, Hayward, C, Gibson, J, Cree, A J, Macleod, A, Ennis, S, Polasek, O, Campbell, H, Wilson, J F, Viswanathan, A C & Fleck, B & Wright, A F 2013, ' Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus ', Nature Genetics, vol. 45, no. 2, pp. 155-163 . https://doi.org/10.1038/ng.2506
Nature Genetics, 45(2), 155-163. Nature Publishing Group
ISSN: 1061-4036
DOI: 10.1038/ng.2506
Popis: The author manuscript of this article is open access and is freely available online at PubMed Central
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.
Databáze: OpenAIRE
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