Polymorphisms in DCDC2 and S100B associate with developmental dyslexia

Research output: Contribution to journalArticle


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.


  • Hans Matsson
  • Mikael Huss
  • Helena Persson
  • Elisabet Einarsdottir
  • Ettore Tiraboschi
  • Jaana Nopola-Hemmi
  • Johannes Schumacher
  • Nina Neuhoff
  • Andreas Warnke
  • Heikki Lyytinen
  • Gert Schulte-Körne
  • Markus M Nöthen
  • Paavo H T Leppänen
  • Myriam Peyrard-Janvid
  • Juha Kere
External organisations
  • Karolinska Institutet
Research areas and 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
Original languageEnglish
Pages (from-to)399-401
Number of pages3
JournalJournal of Human Genetics
Issue number7
Publication statusPublished - 2015 Jul
Publication categoryResearch
Externally publishedYes