Format

Send to

Choose Destination
J Hum Genet. 2015 Jul;60(7):399-401. doi: 10.1038/jhg.2015.37. Epub 2015 Apr 16.

Polymorphisms in DCDC2 and S100B associate with developmental dyslexia.

Author information

1
Department of Biosciences and Nutrition, and Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden.
2
1] Science for Life Laboratory, Stockholm, Sweden [2] Department of Biochemistry and Biophysics, Stockholm University, Stockholm, Sweden.
3
Division of Child Neurology, Department of Gynecology and Pediatrics, Jorvi Hospital, University Central Hospital, Espoo, Finland.
4
Institute of Human Genetics and Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany.
5
Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Munich, Munich, Germany.
6
Department of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, University of Wuerzburg, Wuerzburg, Germany.
7
Department of Psychology and Child Research Center, University of Jyväskylä, Jyväskylä, Finland.
8
Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany.
9
Department of Psychology, University of Jyväskylä, Jyväskylä, Finland.
10
1] Department of Biosciences and Nutrition, and Center for Innovative Medicine, Karolinska Institutet, Huddinge, Sweden [2] Science for Life Laboratory, Stockholm, Sweden [3] Molecular Neurology Research Program, Research Programs Unit, University of Helsinki, Helsinki, Finland [4] Folkhälsan Institute of Genetics, Helsinki, Finland.

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 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.

PMID:
25877001
PMCID:
PMC4521290
DOI:
10.1038/jhg.2015.37
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center