title: Genetic variation in CNTNAP2 alters brain function during linguistic processing in healthy individuals.
abstract: Language impairments are a characteristic feature of autism and related autism spectrum disorders (ASDs). Autism is also highly heritable and one of the most promising candidate genes implicated in its pathogenesis is contactin-associated protein-like 2 (CNTNAP2), a gene also associated with language impairment. In the current study we investigated the functional effects of variants of CNTNAP2 associated with autism and language impairment (rs7794745 and rs2710102; presumed risk alleles T and C, respectively) in healthy individuals using functional magnetic resonance imaging (fMRI) during performance of a language task (n = 66). Against a background of normal performance and lack of behavioral abnormalities, healthy individuals with the putative risk allele versus those without demonstrated significant increases in activation in the right inferior frontal gyrus (Broca's area homologue) and right lateral temporal cortex. These findings demonstrate that risk associated variation in the CNTNAP2 gene impacts on brain activation in healthy non-autistic individuals during a language processing task providing evidence of the effect of genetic variation in CNTNAP2 on a core feature of ASDs.
authors: Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Edinburgh, UK. hwhalley@staffmail.ed.ac.uk
authors: Heather C
authors: HC
authors: Whalley
authors: Garret
authors: G
authors: O'Connell
authors: Jessika E
authors: JE
authors: Sussmann
authors: Anna
authors: A
authors: Peel
authors: Andrew C
authors: AC
authors: Stanfield
authors: Marianna E
authors: ME
authors: Hayiou-Thomas
authors: Eve C
authors: EC
authors: Johnstone
authors: Stephen M
authors: SM
authors: Lawrie
authors: Andrew M
authors: AM
authors: McIntosh
authors: Jeremy
authors: J
authors: Hall
mesh_terms: D000328:Adult; D001321:Autistic Disorder / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology / Q000502:physiology*; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D005260:Female; D005625:Frontal Lobe / Q000502:physiology; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007806:Language Disorders / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: C403049:CNTNAP2 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins