TEDJA, M. S.; 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.; HOHN, 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.; POLASEK, 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.; LEHTIMAKI, T.; RAITAKARI, O. T.; BIINO, G.; CONCAS, M. P.; SCHWANTES-AN, T. H.; IGO, R. P., Jr.; CUELLAR-PARTIDA, G.; MARTIN, N. G.; CRAIG, J. E.; GHARAHKHANI, P.; WILLIAMS, K. M.; NAG, A.; RAHI, J. S.; CUMBERLAND, P. M.; DELCOURT, Cécile; 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.; PARSSINEN, 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.

doi:10.1038/s41588-018-0127-7

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Nature Genetics. 2018-06, vol. 50, n° 6, p. 834-848

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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.< Réduire

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Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

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