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dc.contributor.authorTedja, Milly S.
dc.contributor.authorWojciechowski, Robert
dc.contributor.authorHysi, Pirro G.
dc.contributor.authorEriksson, Nicholas
dc.contributor.authorFurlotte, Nicholas A.
dc.contributor.authorVerhoeven, Virginie J. M.
dc.contributor.authorIglesias, Adriana I.
dc.contributor.authorMeester-Smoor, Magda A.
dc.contributor.authorTompson, Stuart W.
dc.contributor.authorFan, Qiao
dc.contributor.authorKhawaja, Anthony P.
dc.contributor.authorCheng, Ching-Yu
dc.contributor.authorHöhn, René
dc.contributor.authorYamashiro, Kenji
dc.contributor.authorWenocur, Adam
dc.contributor.authorGrazal, Clare
dc.contributor.authorHaller, Toomas
dc.contributor.authorMetspalu, Andres
dc.contributor.authorWedenoja, Juho
dc.contributor.authorJonas, Jost B.
dc.contributor.authorWang, Ya Xing
dc.contributor.authorXie, Jing
dc.contributor.authorMitchell, Paul
dc.contributor.authorFoster, Paul J.
dc.contributor.authorKlein, Barbara E. K.
dc.contributor.authorKlein, Ronald
dc.contributor.authorPaterson, Andrew D.
dc.contributor.authorHosseini, S. Mohsen
dc.contributor.authorShah, Rupal L.
dc.contributor.authorWilliams, Cathy
dc.contributor.authorTeo, Yik Ying
dc.contributor.authorTham, Yih Chung
dc.contributor.authorGupta, Preeti
dc.contributor.authorZhao, Wanting
dc.contributor.authorShi, Yuan
dc.contributor.authorSaw, Woei-Yuh
dc.contributor.authorTai, E-Shyong
dc.contributor.authorSim, Xue Ling
dc.contributor.authorHuffman, Jennifer E.
dc.contributor.authorPolasek, Ozren
dc.contributor.authorHayward, Caroline
dc.contributor.authorBencic, Goran
dc.contributor.authorRudan, Igor
dc.contributor.authorWilson, James F.
dc.contributor.authorConsortium, The CREAM
dc.contributor.authorTeam, 23andMe Research
dc.contributor.authorConsortium, UK Biobank Eye and Vision
dc.contributor.authorJoshi, Peter K.
dc.contributor.authorTsujikawa, Akitaka
dc.contributor.authorMatsuda, Fumihiko
dc.contributor.authorWhisenhunt, Kristina N.
dc.contributor.authorZeller, Tanja
dc.contributor.authorvan der Spek, Peter J.
dc.contributor.authorHaak, Roxanna
dc.contributor.authorMeijers-Heijboer, Hanne
dc.contributor.authorvan Leeuwen, Elisabeth M.
dc.contributor.authorIyengar, Sudha K.
dc.contributor.authorLass, Jonathan H.
dc.contributor.authorHofman, Albert
dc.contributor.authorRivadeneira, Fernando
dc.contributor.authorUitterlinden, André G.
dc.contributor.authorVingerling, Johannes R.
dc.contributor.authorLehtimäki, Terho
dc.contributor.authorRaitakari, Olli T.
dc.contributor.authorBiino, Ginevra
dc.contributor.authorConcas, Maria Pina
dc.contributor.authorSchwantes-An, Tae-Hwi
dc.contributor.authorIgo, Robert P.
dc.contributor.authorCuellar-Partida, Gabriel
dc.contributor.authorMartin, Nicholas G.
dc.contributor.authorCraig, Jamie E.
dc.contributor.authorGharahkhani, Puya
dc.contributor.authorWilliams, Katie M.
dc.contributor.authorNag, Abhishek
dc.contributor.authorRahi, Jugnoo S.
dc.contributor.authorCumberland, Phillippa M.
dc.contributor.authorDelcourt, Cécile
dc.contributor.authorBellenguez, Céline
dc.contributor.authorRied, Janina S.
dc.contributor.authorBergen, Arthur A.
dc.contributor.authorMeitinger, Thomas
dc.contributor.authorGieger, Christian
dc.contributor.authorWong, Tien Yin
dc.contributor.authorHewitt, Alex W.
dc.contributor.authorMackey, David A.
dc.contributor.authorSimpson, Claire L.
dc.contributor.authorPfeiffer, Norbert
dc.contributor.authorPärssinen, Olavi
dc.contributor.authorBaird, Paul N.
dc.contributor.authorVitart, Veronique
dc.contributor.authorAmin, Najaf
dc.contributor.authorvan Duijn, Cornelia M.
dc.contributor.authorBailey-Wilson, Joan E.
dc.contributor.authorYoung, Terri L.
dc.contributor.authorSaw, Seang-Mei
dc.contributor.authorStambolian, Dwight
dc.contributor.authorMacGregor, Stuart
dc.contributor.authorGuggenheim, Jeremy A.
dc.contributor.authorTung, Joyce Y.
dc.contributor.authorHammond, Christopher J.
dc.contributor.authorKlaver, Caroline C. W.
dc.date.accessioned2019-02-18T06:33:24Z
dc.date.available2019-02-18T06:33:24Z
dc.date.issued2018fi
dc.identifier.citationTedja, M. S., Wojciechowski, R., Hysi, P. G., Eriksson, N., Furlotte, N. A., Verhoeven, V. J. M., . . . Klaver, C. C. W. (2018). Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. <em>Nature Genetics</em>, 50 (6), 834-848. <a href="https://doi.org/10.1038/s41588-018-0127-7">doi:10.1038/s41588-018-0127-7</a>fi
dc.identifier.otherTUTKAID_77813
dc.identifier.urihttps://jyx.jyu.fi/handle/123456789/62792
dc.description.abstractRefractive 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.mimetypeapplication/pdf
dc.language.isoeng
dc.publisherMacmillan Publishers Limited
dc.relation.ispartofseriesNature Genetics
dc.rightsIn Copyright
dc.subject.othertaittovirheetfi
dc.subject.othergeneettiset tekijätfi
dc.subject.otherrefractive errorsfi
dc.subject.othergenetic factorsfi
dc.titleGenome-wide association meta-analysis highlights light-induced signaling as a driver for refractive errorfi
dc.typearticle
dc.identifier.urnURN:NBN:fi:jyu-201902141502
dc.contributor.laitosLiikuntatieteellinen tiedekuntafi
dc.contributor.laitosFaculty of Sport and Health Sciencesen
dc.contributor.oppiaineGerontologia ja kansanterveys
dc.type.urihttp://purl.org/eprint/type/JournalArticle
dc.date.updated2019-02-14T13:15:17Z
dc.description.reviewstatuspeerReviewed
dc.format.pagerange834-848
dc.relation.issn1061-4036
dc.relation.numberinseries6
dc.relation.volume50
dc.type.versionacceptedVersion
dc.rights.copyright© 2018 Springer Nature Publishing AG.
dc.rights.accesslevelopenAccessfi
dc.format.contentfulltext
dc.rights.urlhttp://rightsstatements.org/page/InC/1.0/?language=en
dc.relation.doi10.1038/s41588-018-0127-7


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