Journal article
Dysfunction of VIPR2 leads to myopia in humans and mice
F Zhao, Q Li, W Chen, H Zhu, D Zhou, PS Reinach, Z Yang, M He, A Xue, D Wu, T Liu, Q Fu, C Zeng, J Qu, X Zhou
Journal of Medical Genetics | BMJ PUBLISHING GROUP | Published : 2022
Abstract
Myopia is the leading cause of refractive errors. As its pathogenesis is poorly understood, we determined if the retinal VIP-VIPR2 signalling pathway axis has a role in controlling signalling output that affects myopia development in mice. Methods Association analysis meta-study, single-cell transcriptome, bulk RNA sequencing, pharmacological manipulation and VIPR2 gene knockout studies were used to clarify if changes in the VIP-VIPR2 signalling pathway affect refractive development in mice. Results The SNP rs6979985 of the VIPR2 gene was associated with high myopia in a Chinese Han cohort (randomceffect model: p=0.013). After either 1 or 2 days' form deprivation (FD) retinal VIP mRNA expres..
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Awarded by National Natural Science Foundation of China
Funding Acknowledgements
The study was supported by the National Natural Science Foundation of China grants 81570881 and 81170880 (FZ), 81670886 and 81422007 (XZ) and 81670876 (JQ); the National Key Research and Development Program of China grant No. 2016YFC0905201 (JQ) and No. 2016YFC0901504 (XZ); Zhejiang Provincial Natural Science Foundation of China grants LY18H120005 (FZ); Zhejiang Province Program for the Cultivation of High-Level Innovative Health Talents (XZ); and The National Young Excellent Talents Support Program (XZ).