@article{3e7b884f9a2f4ef8a14072444904a2e1,
title = "Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error",
abstract = "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.",
author = "{CREAM Consortium} and Tedja, {Milly S} and Robert Wojciechowski and Hysi, {Pirro G} and Nicholas Eriksson and Furlotte, {Nicholas A} and Verhoeven, {Virginie J M} and Iglesias, {Adriana I} and Meester-Smoor, {Magda A} and Tompson, {Stuart W} and Qiao Fan and Khawaja, {Anthony P} and Ching-Yu Cheng and Ren{\'e} H{\"o}hn and Kenji Yamashiro and Adam Wenocur and Clare Grazal and Toomas Haller and Andres Metspalu and Juho Wedenoja and Jonas, {Jost B} and Wang, {Ya Xing} and Jing Xie and Paul Mitchell and Foster, {Paul J} and Klein, {Barbara E K} and Ronald Klein and Paterson, {Andrew D} and Hosseini, {S Mohsen} and Shah, {Rupal L} and Cathy Williams and Teo, {Yik Ying} and Tham, {Yih Chung} and Preeti Gupta and Wanting Zhao and Yuan Shi and Woei-Yuh Saw and E-Shyong Tai and Sim, {Xue Ling} and Huffman, {Jennifer E} and Ozren Pola{\v s}ek and Caroline Hayward and Goran Bencic and Igor Rudan and Wilson, {James F} and Joshi, {Peter K} and Akitaka Tsujikawa and Fumihiko Matsuda and Hanne Meijers-Heijboer and {van Leeuwen}, {Elisabeth M} and Bergen, {Arthur A} and CREAM and Tin Aung and Wei Chen and Wei Chen",
year = "2018",
month = jun,
doi = "https://doi.org/10.1038/s41588-018-0127-7",
language = "English",
volume = "50",
pages = "834--848",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "6",
}