Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
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DOI：
10.1038/ng.2506
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发表时间：
2013-02
期刊：
影响因子：
30.8
通讯作者：
Wong, Tien Y.
中科院分区：
文献类型：
--
作者：
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;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.
中央角膜厚度（CCT）与包括圆锥角膜和青光眼在内的眼部疾病相关。我们对欧洲和亚洲人群中超过20，000名个体进行了荟萃分析，确定了16个与CCT相关的新基因座，具有全基因组显著性（P < 5 × 10−8）。我们进一步发现，在874例病例和6,085例对照的2个队列中，2个CCT相关基因座FOXO 1和FNDC 3B赋予圆锥角膜相对较大的风险（FOXO 1附近的rs 2721051的比值比（OR）= 1.62，95%置信区间（CI）= 1.4-1.88，P = 2.7 × 10 - 10，FNDC 3B中的rs 4894535的OR = 1.47，95% CI = 1.29-1.68，P = 4.9 × 10−9）。FNDC 3B也与原发性开角型青光眼相关（P = 5.6 × 10−4;在3个队列中检测，2，979例病例和7，399例对照）。进一步的分析表明胶原和细胞外基质通路参与CCT的调节。
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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影响因子：
9.8
作者：
Liu, Jimmy Z.;Mcrae, Allan F.;Macgregor, Stuart
通讯作者：
Macgregor, Stuart
影响因子：
4.4
作者：
Christensen, Anne E.;Knappskog, Per M.;Boman, Helge
通讯作者：
Boman, Helge
影响因子：
--
作者：
Herndon, LW;Choudhri, SA;Allingham, RR
通讯作者：
Allingham, RR
影响因子：
9.8
作者：
Göring, HHH;Terwilliger, JD;Blangero, J
通讯作者：
Blangero, J
DOI：
10.1159/000275682
发表时间：
1984-01-01
期刊：
ORL-JOURNAL FOR OTO-RHINO-LARYNGOLOGY AND ITS RELATED SPECIALTIES
影响因子：
--
作者：
PEDERSEN, U;BRAMSEN, T
通讯作者：
BRAMSEN, T