Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
dc.rights.license | open | en_US |
dc.contributor.author | TEDJA, M. S. | |
dc.contributor.author | WOJCIECHOWSKI, R. | |
dc.contributor.author | HYSI, P. G. | |
dc.contributor.author | ERIKSSON, N. | |
dc.contributor.author | FURLOTTE, N. A. | |
dc.contributor.author | VERHOEVEN, V. J. M. | |
dc.contributor.author | IGLESIAS, A. I. | |
dc.contributor.author | MEESTER-SMOOR, M. A. | |
dc.contributor.author | TOMPSON, S. W. | |
dc.contributor.author | FAN, Q. | |
dc.contributor.author | KHAWAJA, A. P. | |
dc.contributor.author | CHENG, C. Y. | |
dc.contributor.author | HOHN, R. | |
dc.contributor.author | YAMASHIRO, K. | |
dc.contributor.author | WENOCUR, A. | |
dc.contributor.author | GRAZAL, C. | |
dc.contributor.author | HALLER, T. | |
dc.contributor.author | METSPALU, A. | |
dc.contributor.author | WEDENOJA, J. | |
dc.contributor.author | JONAS, J. B. | |
dc.contributor.author | WANG, Y. X. | |
dc.contributor.author | XIE, J. | |
dc.contributor.author | MITCHELL, P. | |
dc.contributor.author | FOSTER, P. J. | |
dc.contributor.author | KLEIN, B. E. K. | |
dc.contributor.author | KLEIN, R. | |
dc.contributor.author | PATERSON, A. D. | |
dc.contributor.author | HOSSEINI, S. M. | |
dc.contributor.author | SHAH, R. L. | |
dc.contributor.author | WILLIAMS, C. | |
dc.contributor.author | TEO, Y. Y. | |
dc.contributor.author | THAM, Y. C. | |
dc.contributor.author | GUPTA, P. | |
dc.contributor.author | ZHAO, W. | |
dc.contributor.author | SHI, Y. | |
dc.contributor.author | SAW, W. Y. | |
dc.contributor.author | TAI, E. S. | |
dc.contributor.author | SIM, X. L. | |
dc.contributor.author | HUFFMAN, J. E. | |
dc.contributor.author | POLASEK, O. | |
dc.contributor.author | HAYWARD, C. | |
dc.contributor.author | BENCIC, G. | |
dc.contributor.author | RUDAN, I. | |
dc.contributor.author | WILSON, J. F. | |
dc.contributor.author | JOSHI, P. K. | |
dc.contributor.author | TSUJIKAWA, A. | |
dc.contributor.author | MATSUDA, F. | |
dc.contributor.author | WHISENHUNT, K. N. | |
dc.contributor.author | ZELLER, T. | |
dc.contributor.author | VAN DER SPEK, P. J. | |
dc.contributor.author | HAAK, R. | |
dc.contributor.author | MEIJERS-HEIJBOER, H. | |
dc.contributor.author | VAN LEEUWEN, E. M. | |
dc.contributor.author | IYENGAR, S. K. | |
dc.contributor.author | LASS, J. H. | |
dc.contributor.author | HOFMAN, A. | |
dc.contributor.author | RIVADENEIRA, F. | |
dc.contributor.author | UITTERLINDEN, A. G. | |
dc.contributor.author | VINGERLING, J. R. | |
dc.contributor.author | LEHTIMAKI, T. | |
dc.contributor.author | RAITAKARI, O. T. | |
dc.contributor.author | BIINO, G. | |
dc.contributor.author | CONCAS, M. P. | |
dc.contributor.author | SCHWANTES-AN, T. H. | |
dc.contributor.author | IGO, R. P., Jr. | |
dc.contributor.author | CUELLAR-PARTIDA, G. | |
dc.contributor.author | MARTIN, N. G. | |
dc.contributor.author | CRAIG, J. E. | |
dc.contributor.author | GHARAHKHANI, P. | |
dc.contributor.author | WILLIAMS, K. M. | |
dc.contributor.author | NAG, A. | |
dc.contributor.author | RAHI, J. S. | |
dc.contributor.author | CUMBERLAND, P. M. | |
hal.structure.identifier | Bordeaux population health [BPH] | |
dc.contributor.author | DELCOURT, Cécile | |
dc.contributor.author | BELLENGUEZ, C. | |
dc.contributor.author | RIED, J. S. | |
dc.contributor.author | BERGEN, A. A. | |
dc.contributor.author | MEITINGER, T. | |
dc.contributor.author | GIEGER, C. | |
dc.contributor.author | WONG, T. Y. | |
dc.contributor.author | HEWITT, A. W. | |
dc.contributor.author | MACKEY, D. A. | |
dc.contributor.author | SIMPSON, C. L. | |
dc.contributor.author | PFEIFFER, N. | |
dc.contributor.author | PARSSINEN, O. | |
dc.contributor.author | BAIRD, P. N. | |
dc.contributor.author | VITART, V. | |
dc.contributor.author | AMIN, N. | |
dc.contributor.author | VAN DUIJN, C. M. | |
dc.contributor.author | BAILEY-WILSON, J. E. | |
dc.contributor.author | YOUNG, T. L. | |
dc.contributor.author | SAW, S. M. | |
dc.contributor.author | STAMBOLIAN, D. | |
dc.contributor.author | MACGREGOR, S. | |
dc.contributor.author | GUGGENHEIM, J. A. | |
dc.contributor.author | TUNG, J. Y. | |
dc.contributor.author | HAMMOND, C. J. | |
dc.contributor.author | KLAVER, C. C. W. | |
dc.date.accessioned | 2021-01-05T15:19:55Z | |
dc.date.available | 2021-01-05T15:19:55Z | |
dc.date.issued | 2018-06 | |
dc.identifier.issn | 1546-1718 (Electronic) 1061-4036 (Linking) | en_US |
dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/23674 | |
dc.description.abstractEn | 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. | |
dc.language.iso | EN | en_US |
dc.subject.en | LEHA | |
dc.title.en | Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error | |
dc.title.alternative | Nat Genet | en_US |
dc.type | Article de revue | en_US |
dc.identifier.doi | 10.1038/s41588-018-0127-7 | en_US |
dc.subject.hal | Sciences du Vivant [q-bio]/Santé publique et épidémiologie | en_US |
dc.identifier.pubmed | 29808027 | en_US |
bordeaux.journal | Nature Genetics | en_US |
bordeaux.page | 834-848 | en_US |
bordeaux.volume | 50 | en_US |
bordeaux.hal.laboratories | Bordeaux Population Health Research Center (BPH) - U1219 | en_US |
bordeaux.issue | 6 | en_US |
bordeaux.institution | Université de Bordeaux | en_US |
bordeaux.team | LEHA_BPH | |
bordeaux.peerReviewed | oui | en_US |
bordeaux.inpress | non | en_US |
hal.identifier | hal-03193823 | |
hal.version | 1 | |
hal.date.transferred | 2021-04-09T07:54:33Z | |
hal.export | true | |
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