作者
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 JM Verhoeven, Franz Grus, Roger Wolfs, Raphaële Castagne, Karl J Lackner, Henriët Springelkamp, Jian Yang, Fridbert Jonasson, Dexter YL Leung, Li J Chen, Clement CY 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, Xiaohui Li, David Siscovick, Kent D Taylor, Jerome I Rotter, Seyhan Yazar, Megan Ulmer, Jun Li, Brian L Yaspan, Ayse B Ozel, Julia E Richards, Sayoko E Moroi, Jonathan L Haines, Jae H Kang, Louis R Pasquale, R Rand Allingham, Allison Ashley-Koch, NEIGHBOR Consortium, Paul Mitchell, Jie Jin Wang, Alan F Wright, Craig Pennell, Timothy D Spector, Terri L Young, Caroline CW Klaver, Nicholas G Martin, Grant W Montgomery, Michael G Anderson, Tin Aung, Colin E Willoughby, Janey L Wiggs, Chi P Pang, Unnur Thorsteinsdottir, Andrew J Lotery, Christopher J Hammond, Cornelia M van Duijn, Michael A Hauser, Yaron S Rabinowitz, Norbert Pfeiffer, David A Mackey, Jamie E Craig, Stuart Macgregor, Tien Y Wong
发表日期
2013/2
期刊
Nature genetics
卷号
45
期号
2
页码范围
155-163
出版商
Nature Publishing Group US
简介
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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Y Lu, V Vitart, KP Burdon, CC Khor, Y Bykhovskaya… - Nature genetics, 2013