Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error
dc.contributor.author | Tedja, Milly S. | |
dc.contributor.author | Wojciechowski, Robert | |
dc.contributor.author | Hysi, Pirro G. | |
dc.contributor.author | Eriksson, Nicholas | |
dc.contributor.author | Furlotte, Nicholas A. | |
dc.contributor.author | Verhoeven, Virginie J. M. | |
dc.contributor.author | Iglesias, Adriana I. | |
dc.contributor.author | Meester-Smoor, Magda A. | |
dc.contributor.author | Tompson, Stuart W. | |
dc.contributor.author | Fan, Qiao | |
dc.contributor.author | Khawaja, Anthony P. | |
dc.contributor.author | Cheng, Ching-Yu | |
dc.contributor.author | Höhn, René | |
dc.contributor.author | Yamashiro, Kenji | |
dc.contributor.author | Wenocur, Adam | |
dc.contributor.author | Grazal, Clare | |
dc.contributor.author | Haller, Toomas | |
dc.contributor.author | Metspalu, Andres | |
dc.contributor.author | Wedenoja, Juho | |
dc.contributor.author | Jonas, Jost B. | |
dc.contributor.author | Wang, Ya Xing | |
dc.contributor.author | Xie, Jing | |
dc.contributor.author | Mitchell, Paul | |
dc.contributor.author | Foster, Paul J. | |
dc.contributor.author | Klein, Barbara E. K. | |
dc.contributor.author | Klein, Ronald | |
dc.contributor.author | Paterson, Andrew D. | |
dc.contributor.author | Hosseini, S. Mohsen | |
dc.contributor.author | Shah, Rupal L. | |
dc.contributor.author | Williams, Cathy | |
dc.contributor.author | Teo, Yik Ying | |
dc.contributor.author | Tham, Yih Chung | |
dc.contributor.author | Gupta, Preeti | |
dc.contributor.author | Zhao, Wanting | |
dc.contributor.author | Shi, Yuan | |
dc.contributor.author | Saw, Woei-Yuh | |
dc.contributor.author | Tai, E-Shyong | |
dc.contributor.author | Sim, Xue Ling | |
dc.contributor.author | Huffman, Jennifer E. | |
dc.contributor.author | Polasek, Ozren | |
dc.contributor.author | Hayward, Caroline | |
dc.contributor.author | Bencic, Goran | |
dc.contributor.author | Rudan, Igor | |
dc.contributor.author | Wilson, James F. | |
dc.contributor.author | Consortium, The CREAM | |
dc.contributor.author | Team, 23andMe Research | |
dc.contributor.author | Consortium, UK Biobank Eye and Vision | |
dc.contributor.author | Joshi, Peter K. | |
dc.contributor.author | Tsujikawa, Akitaka | |
dc.contributor.author | Matsuda, Fumihiko | |
dc.contributor.author | Whisenhunt, Kristina N. | |
dc.contributor.author | Zeller, Tanja | |
dc.contributor.author | van der Spek, Peter J. | |
dc.contributor.author | Haak, Roxanna | |
dc.contributor.author | Meijers-Heijboer, Hanne | |
dc.contributor.author | van Leeuwen, Elisabeth M. | |
dc.contributor.author | Iyengar, Sudha K. | |
dc.contributor.author | Lass, Jonathan H. | |
dc.contributor.author | Hofman, Albert | |
dc.contributor.author | Rivadeneira, Fernando | |
dc.contributor.author | Uitterlinden, André G. | |
dc.contributor.author | Vingerling, Johannes R. | |
dc.contributor.author | Lehtimäki, Terho | |
dc.contributor.author | Raitakari, Olli T. | |
dc.contributor.author | Biino, Ginevra | |
dc.contributor.author | Concas, Maria Pina | |
dc.contributor.author | Schwantes-An, Tae-Hwi | |
dc.contributor.author | Igo, Robert P. | |
dc.contributor.author | Cuellar-Partida, Gabriel | |
dc.contributor.author | Martin, Nicholas G. | |
dc.contributor.author | Craig, Jamie E. | |
dc.contributor.author | Gharahkhani, Puya | |
dc.contributor.author | Williams, Katie M. | |
dc.contributor.author | Nag, Abhishek | |
dc.contributor.author | Rahi, Jugnoo S. | |
dc.contributor.author | Cumberland, Phillippa M. | |
dc.contributor.author | Delcourt, Cécile | |
dc.contributor.author | Bellenguez, Céline | |
dc.contributor.author | Ried, Janina S. | |
dc.contributor.author | Bergen, Arthur A. | |
dc.contributor.author | Meitinger, Thomas | |
dc.contributor.author | Gieger, Christian | |
dc.contributor.author | Wong, Tien Yin | |
dc.contributor.author | Hewitt, Alex W. | |
dc.contributor.author | Mackey, David A. | |
dc.contributor.author | Simpson, Claire L. | |
dc.contributor.author | Pfeiffer, Norbert | |
dc.contributor.author | Pärssinen, Olavi | |
dc.contributor.author | Baird, Paul N. | |
dc.contributor.author | Vitart, Veronique | |
dc.contributor.author | Amin, Najaf | |
dc.contributor.author | van Duijn, Cornelia M. | |
dc.contributor.author | Bailey-Wilson, Joan E. | |
dc.contributor.author | Young, Terri L. | |
dc.contributor.author | Saw, Seang-Mei | |
dc.contributor.author | Stambolian, Dwight | |
dc.contributor.author | MacGregor, Stuart | |
dc.contributor.author | Guggenheim, Jeremy A. | |
dc.contributor.author | Tung, Joyce Y. | |
dc.contributor.author | Hammond, Christopher J. | |
dc.contributor.author | Klaver, Caroline C. W. | |
dc.date.accessioned | 2019-02-18T06:33:24Z | |
dc.date.available | 2019-02-18T06:33:24Z | |
dc.date.issued | 2018 | |
dc.identifier.citation | 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., Höhn, R., Yamashiro, K., Wenocur, A., Grazal, C., Haller, T., Metspalu, A., Wedenoja, J., . . . Klaver, C. C. W. (2018). Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. <i>Nature Genetics</i>, <i>50</i>(6), 834-848. <a href="https://doi.org/10.1038/s41588-018-0127-7" target="_blank">https://doi.org/10.1038/s41588-018-0127-7</a> | |
dc.identifier.other | CONVID_28085903 | |
dc.identifier.other | TUTKAID_77813 | |
dc.identifier.uri | https://jyx.jyu.fi/handle/123456789/62792 | |
dc.description.abstract | 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. | fi |
dc.format.mimetype | application/pdf | |
dc.language.iso | eng | |
dc.publisher | Macmillan Publishers Limited | |
dc.relation.ispartofseries | Nature Genetics | |
dc.rights | In Copyright | |
dc.subject.other | taittovirheet | fi |
dc.subject.other | geneettiset tekijät | fi |
dc.subject.other | refractive errors | fi |
dc.subject.other | genetic factors | fi |
dc.title | Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error | |
dc.type | article | |
dc.identifier.urn | URN:NBN:fi:jyu-201902141502 | |
dc.contributor.laitos | Liikuntatieteellinen tiedekunta | fi |
dc.contributor.laitos | Faculty of Sport and Health Sciences | en |
dc.contributor.oppiaine | Gerontologia ja kansanterveys | fi |
dc.contributor.oppiaine | Gerontologian tutkimuskeskus | fi |
dc.contributor.oppiaine | Hyvinvoinnin tutkimuksen yhteisö | fi |
dc.contributor.oppiaine | Gerontology and Public Health | en |
dc.contributor.oppiaine | Gerontology Research Center | en |
dc.contributor.oppiaine | School of Wellbeing | en |
dc.type.uri | http://purl.org/eprint/type/JournalArticle | |
dc.date.updated | 2019-02-14T13:15:17Z | |
dc.type.coar | http://purl.org/coar/resource_type/c_2df8fbb1 | |
dc.description.reviewstatus | peerReviewed | |
dc.format.pagerange | 834-848 | |
dc.relation.issn | 1061-4036 | |
dc.relation.numberinseries | 6 | |
dc.relation.volume | 50 | |
dc.type.version | acceptedVersion | |
dc.rights.copyright | © 2018 Springer Nature Publishing AG. | |
dc.rights.accesslevel | openAccess | fi |
dc.subject.yso | taittovirheet | |
dc.subject.yso | geneettiset tekijät | |
dc.format.content | fulltext | |
jyx.subject.uri | http://www.yso.fi/onto/yso/p5994 | |
jyx.subject.uri | http://www.yso.fi/onto/yso/p21661 | |
dc.rights.url | http://rightsstatements.org/page/InC/1.0/?language=en | |
dc.relation.doi | 10.1038/s41588-018-0127-7 | |
dc.type.okm | A1 |
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