Tedja, Milly S; Wojciechowski, Robert; Hysi, Pirro G; Eriksson, Nicholas; Furlotte, Nicholas A; Verhoeven, Virginie J M; Iglesias, Adriana I; Meester-Smoor, Magda A; Tompson, Stuart W; Fan, Qiao; Khawaja, Anthony P; Cheng, Ching-Yu; Höhn, René; Yamashiro, Kenji; Wenocur, Adam; Grazal, Clare; Haller, Toomas; Metspalu, Andres; Wedenoja, Juho; Jonas, Jost B; ... (2018). Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. Nature genetics, 50(6), pp. 834-848. Springer Nature 10.1038/s41588-018-0127-7
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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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Ophthalmology |
UniBE Contributor: |
Höhn, René Gerhard Joachim |
Subjects: |
600 Technology > 610 Medicine & health |
ISSN: |
1546-1718 |
Publisher: |
Springer Nature |
Language: |
English |
Submitter: |
René Gerhard Joachim Höhn |
Date Deposited: |
21 Oct 2019 15:49 |
Last Modified: |
05 Dec 2022 15:31 |
Publisher DOI: |
10.1038/s41588-018-0127-7 |
PubMed ID: |
29808027 |
BORIS DOI: |
10.7892/boris.134091 |
URI: |
https://boris.unibe.ch/id/eprint/134091 |
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