期刊
NATURE GENETICS
卷 50, 期 6, 页码 834-+出版社
NATURE PORTFOLIO
DOI: 10.1038/s41588-018-0127-7
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资金
- European Research Council (ERC) [648268]
- Netherlands Organisation for Scientific Research (NWO) [91815655]
- National Eye Institute [R01EY020483]
- MRC [MR/K023721/1, MR/N003284/1, MC_UU_00007/10, G19/2, MC_UU_12015/1] Funding Source: UKRI
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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