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dc.contributor.authorMatsson, Hans
dc.contributor.authorHuss, Mikael
dc.contributor.authorPersson, Helena
dc.contributor.authorEinarsdottir, Elisabet
dc.contributor.authorTiraboschi, Ettore
dc.contributor.authorNopola-Hemmi, Jaana
dc.contributor.authorSchumacher, Johannes
dc.contributor.authorNeuhoff, Nina
dc.contributor.authorWarnke, Andreas
dc.contributor.authorLyytinen, Heikki
dc.contributor.authorSchulte-Körne, Gert
dc.contributor.authorNöthen, Markus M.
dc.contributor.authorLeppänen, Paavo H.T.
dc.contributor.authorPeyrard-Janvid, Myriam
dc.contributor.authorKere, Juha
dc.date.accessioned2015-08-13T11:15:27Z
dc.date.available2015-08-13T11:15:27Z
dc.date.issued2015
dc.identifier.citationMatsson, H., Huss, M., Persson, H., Einarsdottir, E., Tiraboschi, E., Nopola-Hemmi, J., Schumacher, J., Neuhoff, N., Warnke, A., Lyytinen, H., Schulte-Körne, G., Nöthen, M. M., Leppänen, P. H., Peyrard-Janvid, M., & Kere, J. (2015). Polymorphisms in DCDC2 and S100B associate with developmental dyslexia. <i>Journal of Human Genetics</i>, <i>60</i>(7), 399-401. <a href="https://doi.org/10.1038/jhg.2015.37" target="_blank">https://doi.org/10.1038/jhg.2015.37</a>
dc.identifier.otherCONVID_24819750
dc.identifier.otherTUTKAID_66758
dc.identifier.urihttps://jyx.jyu.fi/handle/123456789/46611
dc.description.abstractGenetic studies of complex traits have become increasingly successful as progress is made in next-generation sequencing. We aimed at discovering single nucleotide variation present in known and new candidate genes for developmental dyslexia: CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2 (also known as C2orf3), KIAA0319, MRPL19, PCNT, PRMT2, ROBO1 and S100B. We used next-generation sequencing to identify single-nucleotide polymorphisms in the exons of these 11 genes in pools of 100 DNA samples of Finnish individuals with developmental dyslexia. Subsequent individual genotyping of those 100 individuals, and additional cases and controls from the Finnish and German populations, validated 92 out of 111 different single-nucleotide variants. A nonsynonymous polymorphism in DCDC2 (corrected P=0.002) and a noncoding variant in S100B (corrected P=0.016) showed a significant association with spelling performance in families of German origin. No significant association was found for the variants neither in the Finnish case-control sample set nor in the Finnish family sample set. Our findings further strengthen the role of DCDC2 and implicate S100B, in the biology of reading and spelling.
dc.language.isoeng
dc.publisherNature Publishing Group; Japan Society of Human Genetics
dc.relation.ispartofseriesJournal of Human Genetics
dc.subject.otherindividual genotyping
dc.subject.othersingle-nucleotide polymorphisms
dc.subject.otherdevelopmental dyslexia
dc.titlePolymorphisms in DCDC2 and S100B associate with developmental dyslexia
dc.typearticle
dc.identifier.urnURN:NBN:fi:jyu-201508132655
dc.contributor.laitosAgora Centerfi
dc.contributor.laitosPsykologian laitosfi
dc.contributor.laitosAgora Centeren
dc.contributor.laitosDepartment of Psychologyen
dc.contributor.oppiainePsykologiafi
dc.contributor.oppiainePsychologyen
dc.type.urihttp://purl.org/eprint/type/JournalArticle
dc.date.updated2015-08-13T09:15:05Z
dc.type.coarhttp://purl.org/coar/resource_type/c_2df8fbb1
dc.description.reviewstatuspeerReviewed
dc.format.pagerange399–401
dc.relation.issn1434-5161
dc.relation.numberinseries7
dc.relation.volume60
dc.type.versionpublishedVersion
dc.rights.copyright© 2015 The Japan Society of Human Genetics. This work is licensed under a Creative Commons License.
dc.rights.accesslevelopenAccessfi
dc.subject.ysoperinnöllisyystiede
jyx.subject.urihttp://www.yso.fi/onto/yso/p5147
dc.rights.urlhttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.relation.doi10.1038/jhg.2015.37
dc.type.okmA1


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© 2015 The Japan Society of Human Genetics. This work is licensed under a Creative Commons License.
Ellei muuten mainita, aineiston lisenssi on © 2015 The Japan Society of Human Genetics. This work is licensed under a Creative Commons License.