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Polymorphisms in DCDC2 and S100B associate with developmental dyslexia.

Hans Matsson1, Mikael Huss2, Helena Persson1

  • 1Department of Biosciences and Nutrition, and Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden.

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Genetic variations in DCDC2 and S100B are linked to spelling difficulties in German families, supporting their role in reading and spelling development. This study utilized next-generation sequencing for genetic analysis.

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Area of Science:

  • Genetics
  • Neuroscience
  • Developmental Biology

Background:

  • Genetic factors significantly influence complex traits, with next-generation sequencing advancing discovery.
  • Developmental dyslexia, a common reading disorder, has a complex genetic basis involving multiple candidate genes.

Purpose of the Study:

  • To identify single nucleotide variations in 11 candidate genes associated with developmental dyslexia.
  • To investigate the association of these genetic variants with reading and spelling performance in Finnish and German populations.

Main Methods:

  • Next-generation sequencing was employed to screen exons of 11 candidate genes in Finnish individuals with dyslexia.
  • Single-nucleotide variants were identified and subsequently genotyped in larger Finnish and German cohorts.
  • Statistical analysis was performed to determine associations between variants and spelling performance.

Main Results:

  • 92 out of 111 identified single-nucleotide variants were validated.
  • A significant association was found between a DCDC2 polymorphism and spelling performance in German families (corrected P = 0.002).
  • A significant association was observed for a S100B noncoding variant with spelling performance in German families (corrected P = 0.016).

Conclusions:

  • The findings strengthen the role of DCDC2 in the biological underpinnings of reading and spelling.
  • The study implicates S100B as a gene involved in reading and spelling abilities.
  • Genetic associations were specific to the German population, suggesting potential population-specific genetic influences on dyslexia.