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Polymorphisms in DCDC2 and S100B associate with developmental dyslexia
Stockholms universitet, Naturvetenskapliga fakulteten, Institutionen för biokemi och biofysik. Stockholms universitet, Science for Life Laboratory (SciLifeLab).ORCID-id: 0000-0003-0839-2451
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Antal upphovsmän: 152015 (Engelska)Ingår i: Journal of Human Genetics, ISSN 1434-5161, E-ISSN 1435-232X, Vol. 60, nr 7, s. 399-401Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Genetic 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.

Ort, förlag, år, upplaga, sidor
2015. Vol. 60, nr 7, s. 399-401
Nationell ämneskategori
Medicinsk genetik Biologiska vetenskaper
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URN: urn:nbn:se:su:diva-120476DOI: 10.1038/jhg.2015.37ISI: 000358606400009OAI: oai:DiVA.org:su-120476DiVA, id: diva2:853584
Tillgänglig från: 2015-09-14 Skapad: 2015-09-10 Senast uppdaterad: 2022-03-23Bibliografiskt granskad

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Huss, Mikael

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Institutionen för biokemi och biofysikScience for Life Laboratory (SciLifeLab)
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Journal of Human Genetics
Medicinsk genetikBiologiska vetenskaper

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