title: A common variant of the CNTNAP2 gene is associated with structural variation in the left superior occipital gyrus.
abstract: 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.
authors.affiliation: Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. Electronic address: Julia.udden@mpi.nl.
authors.forename: Julia
authors.initials: J
authors.lastname: Uddén
authors.affiliation: Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands; Centre for Language Studies, Radboud University, Nijmegen, The Netherlands.
authors.forename: Tineke M
authors.initials: TM
authors.lastname: Snijders
authors.affiliation: Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
authors.forename: Simon E
authors.initials: SE
authors.lastname: Fisher
authors.affiliation: Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
authors.forename: Peter
authors.initials: P
authors.lastname: Hagoort
mesh_terms: D000483:Alleles; D005260:Female; D056726:Genetic Association Studies; D066128:Gray Matter / Q000473:pathology*; D006801:Humans; D007802:Language; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D059906:Neuroimaging; D009778:Occipital Lobe / Q000378:metabolism* / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C403049:CNTNAP2 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins
keywords: CNTNAP2; Dorsal visual stream; FOXP2; Grey matter; Language; VBM