作者
Milly S Tedja, Robert Wojciechowski, Pirro G Hysi, Nicholas Eriksson, Nicholas A Furlotte, Virginie JM 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 EK 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, Peter J van der Spek, Roxanna Haak, Hanne Meijers-Heijboer, Elisabeth M van Leeuwen, Sudha K Iyengar, Jonathan H Lass, Albert Hofman, Fernando Rivadeneira, André G Uitterlinden, Johannes R Vingerling, Terho Lehtimäki, Olli T Raitakari, Ginevra Biino, Maria Pina Concas, Tae-Hwi Schwantes-An, Robert P Igo Jr, Gabriel Cuellar-Partida, Nicholas G Martin, Jamie E Craig, Puya Gharahkhani, Katie M Williams, Abhishek Nag, Jugnoo S Rahi, Phillippa M Cumberland, Cécile Delcourt, Céline Bellenguez, Janina S Ried, Arthur A Bergen, Thomas Meitinger, Christian Gieger, Tien Yin Wong, Alex W Hewitt, David A Mackey, Claire L Simpson, Norbert Pfeiffer, Olavi Pärssinen, Paul N Baird, Veronique Vitart, Najaf Amin, Cornelia M van Duijn, Joan E Bailey-Wilson, Terri L Young, Seang-Mei Saw, Dwight Stambolian, Stuart MacGregor, Jeremy A Guggenheim, Joyce Y Tung, Christopher J Hammond, Caroline CW Klaver
发表日期
2018/6
期刊
Nature genetics
卷号
50
期号
6
页码范围
834-848
出版商
Nature Publishing Group US
简介
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 …
引用总数
201820192020202120222023202410414759555317