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dc.contributor.authorMusolf, Anthony M.
dc.contributor.authorHaarman, Annechien E. G.
dc.contributor.authorLuben, Robert N.
dc.contributor.authorOng, Jue-Sheng
dc.contributor.authorPatasova, Karina
dc.contributor.authorTrapero, Rolando Hernandez
dc.contributor.authorMarsh, Joseph
dc.contributor.authorJain, Ishika
dc.contributor.authorJain, Riya
dc.contributor.authorWang, Paul Zhiping
dc.contributor.authorLewis, Deyana D.
dc.contributor.authorTedja, Milly S.
dc.contributor.authorIglesias, Adriana I.
dc.contributor.authorLi, Hengtong
dc.contributor.authorCowan, Cameron S.
dc.contributor.authorBaird, Paul Nigel
dc.contributor.authorVeluchamy, Amutha Barathi
dc.contributor.authorBurdon, Kathryn P.
dc.contributor.authorCampbell, Harry
dc.contributor.authorChen, Li Jia
dc.contributor.authorCheng, Ching-Yu
dc.contributor.authorChew, Emily Y.
dc.contributor.authorCraig, Jamie E.
dc.contributor.authorCumberland, Phillippa M.
dc.contributor.authorDeangelis, Margaret M.
dc.contributor.authorDelcourt, Cécile
dc.contributor.authorDing, Xiaohu
dc.contributor.authorEvans, David M.
dc.contributor.authorFan, Qiao
dc.contributor.authorFossarello, Maurizio
dc.contributor.authorFoster, Paul J.
dc.contributor.authorGharahkhani, Puya
dc.contributor.authorIglesias, Adriana I.
dc.contributor.authorGuggenheim, Jeremy A.
dc.contributor.authorGuo, Xiaobo
dc.contributor.authorHan, Xikun
dc.contributor.authorHe, Mingguang
dc.contributor.authorHewitt, Alex W.
dc.contributor.authorHoang, Quan V.
dc.contributor.authorIyengar, Sudha K.
dc.contributor.authorJonas, Jost B.
dc.contributor.authorKähönen, Mika
dc.contributor.authorKaprio, Jaakko
dc.contributor.authorKlein, Barbara E.
dc.contributor.authorLass, Jonathan H.
dc.contributor.authorLee, Kris
dc.contributor.authorLehtimäki, Terho
dc.contributor.authorLewis, Deyana
dc.contributor.authorLi, Qing
dc.contributor.authorLi, Shi-Ming
dc.contributor.authorLyytikäinen, Leo-Pekka
dc.contributor.authorMacGregor, Stuart
dc.contributor.authorMackey, David A.
dc.contributor.authorMartin, Nicholas G.
dc.contributor.authorMeguro, Akira
dc.contributor.authorMiddlebrooks, Candace
dc.contributor.authorMiyake, Masahiro
dc.contributor.authorMizuki, Nobuhisa
dc.contributor.authorMusolf, Anthony
dc.contributor.authorNickels, Stefan
dc.contributor.authorOexle, Konrad
dc.contributor.authorPang, Chi Pui
dc.contributor.authorPaterson, Andrew D.
dc.contributor.authorPennell, Craig
dc.contributor.authorPfeiffer, Norbert
dc.contributor.authorPolasek, Ozren
dc.contributor.authorRahi, Jugnoo S.
dc.contributor.authorRaitakari, Olli
dc.contributor.authorRudan, Igor
dc.contributor.authorSahebjada, Srujana
dc.contributor.authorSimpson, Claire L.
dc.contributor.authorTai, E-Shyong
dc.contributor.authorTedja, Milly S.
dc.contributor.authorTideman, J. Willem L.
dc.contributor.authorTsujikawa, Akitaka
dc.contributor.authorWang, Ningli
dc.contributor.authorBin, Wei Wen
dc.contributor.authorWilliams, Cathy
dc.contributor.authorWilliams, Katie M.
dc.contributor.authorWilson, James F.
dc.contributor.authorWojciechowski, Robert
dc.contributor.authorWang, Ya Xing
dc.contributor.authorYamashiro, Kenji
dc.contributor.authorYam, Jason C. S.
dc.contributor.authorYap, Maurice K. H.
dc.contributor.authorYazar, Seyhan
dc.contributor.authorYip, Shea Ping
dc.contributor.authorYoung, Terri L.
dc.contributor.authorZhou, Xiangtian
dc.contributor.authorBiino, Ginevra
dc.contributor.authorKlein, Alison P.
dc.contributor.authorDuggal, Priya
dc.contributor.authorMackey, David A.
dc.contributor.authorHayward, Caroline
dc.contributor.authorHaller, Toomas
dc.contributor.authorMetspalu, Andres
dc.contributor.authorWedenoja, Juho
dc.contributor.authorPärssinen, Olavi
dc.contributor.authorCheng, Ching-Yu
dc.contributor.authorSaw, Seang-Mei
dc.contributor.authorStambolian, Dwight
dc.contributor.authorHysi, Pirro G.
dc.contributor.authorKhawaja, Anthony P.
dc.contributor.authorVitart, Veronique
dc.contributor.authorHammond, Christopher J.
dc.contributor.authorvan Duijn, Cornelia M.
dc.contributor.authorVerhoeven, Virginie J. M.
dc.contributor.authorKlaver, Caroline C. W.
dc.contributor.authorBailey-Wilson, Joan E.
dc.date.accessioned2023-01-04T10:57:00Z
dc.date.available2023-01-04T10:57:00Z
dc.date.issued2023
dc.identifier.citationMusolf, A. M., Haarman, A. E. G., Luben, R. N., Ong, J.-S., Patasova, K., Trapero, R. H., Marsh, J., Jain, I., Jain, R., Wang, P. Z., Lewis, D. D., Tedja, M. S., Iglesias, A. I., Li, H., Cowan, C. S., Baird, P. N., Veluchamy, A. B., Burdon, K. P., Campbell, H., . . . Bailey-Wilson, J. E. (2023). Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. <i>Communications Biology</i>, <i>6</i>, Article 6. <a href="https://doi.org/10.1038/s42003-022-04323-7" target="_blank">https://doi.org/10.1038/s42003-022-04323-7</a>
dc.identifier.otherCONVID_164896043
dc.identifier.urihttps://jyx.jyu.fi/handle/123456789/84767
dc.description.abstractRefractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopia (CREAM). The dataset consisted of over 27,000 total subjects from five cohorts of Indo-European and Eastern Asian ethnicity. We identified 129 unique genes associated with refractive error, many of which were replicated in multiple cohorts. Our best novel candidates included the retina expressed PDCD6IP, the circadian rhythm gene PER3, and P4HTM, which affects eye morphology. Future work will include functional studies and validation. Identification of genes contributing to refractive error and future understanding of their function may lead to better treatment and prevention of refractive errors, which themselves are important risk factors for various blinding conditions.en
dc.format.mimetypeapplication/pdf
dc.language.isoeng
dc.publisherNature Publishing Group
dc.relation.ispartofseriesCommunications Biology
dc.rightsCC BY 4.0
dc.subject.othergenetic predisposition to disease
dc.subject.othergenome-wide association studies
dc.subject.othermicroarrays
dc.subject.otherquantitative trait
dc.subject.otherquantitative trait loci
dc.titleRare variant analyses across multiethnic cohorts identify novel genes for refractive error
dc.typearticle
dc.identifier.urnURN:NBN:fi:jyu-202301041122
dc.contributor.laitosLiikuntatieteellinen tiedekuntafi
dc.contributor.laitosFaculty of Sport and Health Sciencesen
dc.type.urihttp://purl.org/eprint/type/JournalArticle
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1
dc.description.reviewstatuspeerReviewed
dc.relation.issn2399-3642
dc.relation.volume6
dc.type.versionpublishedVersion
dc.rights.copyright© Authors, 2023
dc.rights.accesslevelopenAccessfi
dc.subject.ysotaittovirheet
dc.subject.ysoriskitekijät
dc.subject.ysoperiytyvyys
dc.subject.ysoperinnölliset taudit
dc.subject.ysoperinnöllisyyslääketiede
dc.subject.ysoperinnöllisyys
dc.subject.ysoympäristötekijät
dc.subject.ysoperimä
dc.subject.ysosilmätaudit
dc.format.contentfulltext
jyx.subject.urihttp://www.yso.fi/onto/yso/p5994
jyx.subject.urihttp://www.yso.fi/onto/yso/p13277
jyx.subject.urihttp://www.yso.fi/onto/yso/p9515
jyx.subject.urihttp://www.yso.fi/onto/yso/p19997
jyx.subject.urihttp://www.yso.fi/onto/yso/p4427
jyx.subject.urihttp://www.yso.fi/onto/yso/p9514
jyx.subject.urihttp://www.yso.fi/onto/yso/p6194
jyx.subject.urihttp://www.yso.fi/onto/yso/p8862
jyx.subject.urihttp://www.yso.fi/onto/yso/p12047
dc.rights.urlhttps://creativecommons.org/licenses/by/4.0/
dc.relation.doi10.1038/s42003-022-04323-7
jyx.fundinginformationOpen Access funding provided by the National Institutes of Health (NIH).
dc.type.okmA1


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