A common variant of the CNTNAP2 gene is associated with structural variation in the left superior occipital gyrus

Brain Lang. 2017 Sep;172:16-21. doi: 10.1016/j.bandl.2016.02.003. Epub 2016 Apr 5.


The CNTNAP2 gene encodes a cell-adhesion molecule that influences the properties of neural networks and the morphology and density of neurons and glial cells. Previous studies have shown association of CNTNAP2 variants with language-related phenotypes in health and disease. Here, we report associations of a common CNTNAP2 polymorphism (rs7794745) with variation in grey matter in a region in the dorsal visual stream. We tried to replicate an earlier study on 314 subjects by Tan et al. (2010), but now in a substantially larger group of more than 1700 subjects. Carriers of the T allele showed reduced grey matter volume in left superior occipital gyrus, while we did not replicate associations with grey matter volume in other regions identified by Tan et al. (2010). Our work illustrates the importance of independent replication in neuroimaging genetic studies of language-related candidate genes.

Keywords: CNTNAP2; Dorsal visual stream; FOXP2; Grey matter; Language; VBM.

MeSH terms

  • Alleles
  • Female
  • Genetic Association Studies
  • Gray Matter / pathology*
  • Humans
  • Language
  • Male
  • Membrane Proteins / genetics*
  • Nerve Tissue Proteins / genetics*
  • Neuroimaging
  • Occipital Lobe / metabolism*
  • Occipital Lobe / pathology*
  • Polymorphism, Single Nucleotide / genetics*


  • CNTNAP2 protein, human
  • Membrane Proteins
  • Nerve Tissue Proteins