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Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Publication year 2018
Published in Nature Genetics
Authors E.M. van Leeuwen, A.A.B. Bergen, Milly S Tedja, Robert Wojciechowski, Pirro G Hysi, Nicholas Eriksson, Nicholas A Furlotte, Virginie J M Verhoeven, Adriana I Iglesias, Magda A Meester-Smoor, Stuart W Tompson, Qiao Fan, Anthony P Khawaja, Ching-Yu Cheng, René Höhn, Kenji Yamashiro, Adam Wenocur, Clare Grazal, Toomas Haller, Andres Metspalu, Juho Wedenoja, Jost B Jonas, Ya Xing Wang, Jing Xie, Paul Mitchell, Paul J Foster, Barbara E K Klein, Ronald Klein, Andrew D Paterson, S Mohsen Hosseini, Rupal L Shah, Cathy Williams, Yik-Ying Teo, Yih Chung Tham, Preeti Gupta, Wanting Zhao, Yuan Shi, Woei-Yuh Saw, E-Shyong Tai, Xue Ling Sim, Jennifer E Huffman, Ozren Polašek, Caroline Hayward, Goran Bencic, Igor Rudan, James F Wilson, Peter K Joshi, Akitaka Tsujikawa, Fumihiko Matsuda, Kristina N Whisenhunt, Tanja Zeller, P.J. Van der Spek, R. Haak, Hanne Meijers-Heijboer, Sudha K Iyengar, J.H. Lass, A. Hofman, F. Rivadeneira, A.G. Uitterlinden, J.R. Vingerling, T. Lehtimaki, O.T. Raitakari, G. Biino, M.P. Concas, T.H. Schwantes-An, R.P. Igo, G. Cuellar-Partida, N.G. Martin, J.E. Craig, P. Gharahkhani, K.M. Williams, A. Naq, J.S. Rahi, P.M. Cumberland, C. Delcourt, C. Bellenquez, J.S. Ried, T. Meitinger, C. Gieger, T.Y. Wong, A.W. Hewitt, D.A. Mackey, C.L. Simpson, N. Pfeiffer, O. Parssinen, P.N. Baird, V. Vitart, N. Amin, C.M. Van Duijn, J.E. Bailey-Wilson, T.L. Young, S.M. Saw, D. Stambolian, S. MacGregor, J.A. Guggenheim, J.Y. Tung, C.J. Hammond, C.C.W. Klaver,
The order of authors may deviate from the original publication due to temporary technical issues.

Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160,420 participants and replication in 95,505 participants increased the number of established independent signals from 37 to 161 and showed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and also identified functional contributions to refractive-error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes implicate novel mechanisms such as rod-and-cone bipolar synaptic neurotransmission, anterior-segment morphology and angiogenesis. Thirty-one loci resided in or near regions transcribing small RNAs, thus suggesting a role for post-transcriptional regulation. Our results support the notion that refractive errors are caused by a light-dependent retina-to-sclera signaling cascade and delineate potential pathobiological molecular drivers.

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