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Polymorphisms in DCDC2 and S100B associate with developmental dyslexia

Matsson, Hans; Huss, Mikael; Persson, Helena LU ; Einarsdottir, Elisabet; Tiraboschi, Ettore; Nopola-Hemmi, Jaana; Schumacher, Johannes; Neuhoff, Nina; Warnke, Andreas and Lyytinen, Heikki, et al. (2015) In Journal of Human Genetics 60(7). p.399-401
Abstract

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... (More)

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.

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keywords
Case-Control Studies, Dyslexia, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Microtubule-Associated Proteins, Polymorphism, Single Nucleotide, S100 Calcium Binding Protein beta Subunit, Sequence Analysis, DNA
in
Journal of Human Genetics
volume
60
issue
7
pages
3 pages
publisher
Springer
external identifiers
  • Scopus:84938077293
ISSN
1434-5161
DOI
10.1038/jhg.2015.37
language
English
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no
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484ddbc0-3085-4bcf-a930-f30da9e1caf6
date added to LUP
2016-04-14 14:25:01
date last changed
2017-01-15 04:37:59
@article{484ddbc0-3085-4bcf-a930-f30da9e1caf6,
  abstract     = {<p>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.</p>},
  author       = {Matsson, Hans and Huss, Mikael and Persson, Helena and Einarsdottir, Elisabet and Tiraboschi, Ettore and Nopola-Hemmi, Jaana and Schumacher, Johannes and Neuhoff, Nina and Warnke, Andreas and Lyytinen, Heikki and Schulte-Körne, Gert and Nöthen, Markus M and Leppänen, Paavo H T and Peyrard-Janvid, Myriam and Kere, Juha},
  issn         = {1434-5161},
  keyword      = {Case-Control Studies,Dyslexia,Genetic Association Studies,Genetic Predisposition to Disease,Humans,Microtubule-Associated Proteins,Polymorphism, Single Nucleotide,S100 Calcium Binding Protein beta Subunit,Sequence Analysis, DNA},
  language     = {eng},
  number       = {7},
  pages        = {399--401},
  publisher    = {Springer},
  series       = {Journal of Human Genetics},
  title        = {Polymorphisms in DCDC2 and S100B associate with developmental dyslexia},
  url          = {http://dx.doi.org/10.1038/jhg.2015.37},
  volume       = {60},
  year         = {2015},
}