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Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
Open accessAbstract
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. Transancestral GWAS meta-analysis in 160,420 individuals identifies 139 loci associated with refractive error, including myopia. Newly identified genes implicate pathways involved in eye growth and light signaling cascades.
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Metadata
- Authors
- The CREAM Consortium, Tedja, M. S., 23andMe Research Team, UK Biobank Eye and Vision Consortium, Wojciechowski, R., Hysi, P. G., Eriksson, N., Furlotte, N. A., Verhoeven, V. J. M., Iglesias, A. I., Meester-Smoor, M. A., Tompson, S. W., Fan, Q., Khawaja, A. P., Cheng, C.-Y., Höhn, R., Yamashiro, K., Wenocur, A., Grazal, C., Haller, T., Metspalu, A., Wedenoja, J., Jonas, J. B., Wang, Y. X., Xie, J., Mitchell, P., Foster, P. J., Klein, B. E. K., Klein, R., Paterson, A. D., Hosseini, S. M., Shah, R. L., Williams, C., Teo, Y. Y., Tham, Y. C., Gupta, P., Zhao, W., Shi, Y., Saw, W.-Y., Tai, E.-S., Sim, X. L., Huffman, J. E., Polašek, O., Hayward, C., Bencic, G., Rudan, I., Wilson, J. F., Joshi, P. K., Tsujikawa, A., Matsuda, F., Whisenhunt, K. N., Zeller, T., van der Spek, P. J., Haak, R., Meijers-Heijboer, H., van Leeuwen, E. M., Iyengar, S. K., Lass, J. H., Hofman, A., Rivadeneira, F., Uitterlinden, A. G., Vingerling, J. R., Lehtimäki, T., Raitakari, O. T., Biino, G., Concas, M. P., Schwantes-An, T.-H., Igo, R. P., Cuellar-Partida, G., Martin, N. G., Craig, J. E., Gharahkhani, P., Williams, K. M., Nag, A., Rahi, J. S., Cumberland, P. M., Delcourt, C., Bellenguez, C., Ried, J. S., Bergen, A. A., Meitinger, T., Gieger, C., Wong, T. Y., Hewitt, A. W., Mackey, D. A., Simpson, C. L., Pfeiffer, N., Pärssinen, O., Baird, P. N., Vitart, V., Amin, N., van Duijn, C. M., Bailey-Wilson, J. E., Young, T. L., Saw, S.-M., Stambolian, D., MacGregor, S., Guggenheim, J. A., Tung, J. Y., Hammond, C. J., & Klaver, C. C. W.
- Venue
- Nature Genetics
- Published
- 2018-05-28
- Volume
- 50
- Issue
- 6
- Pages
- 834-848
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2804575948
- Cited by
- 355
- References
- 110
- FWCI
- 23.52
- Type
- journal article
- Language
- en
- Open access
- green
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- The CREAM Consortium, Tedja, M. S., 23andMe Research Team, UK Biobank Eye and Vision Consortium, Wojciechowski, R., Hysi, P. G., Eriksson, N., Furlotte, N. A., Verhoeven, V. J. M., Iglesias, A. I., Meester-Smoor, M. A., Tompson, S. W., Fan, Q., Khawaja, A. P., Cheng, C.-Y., Höhn, R., Yamashiro, K., Wenocur, A., Grazal, C., . . . Klaver, C. C. W. (2018). Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. Nature Genetics. https://doi.org/10.1038/s41588-018-0127-7
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