title: Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population.
abstract: BACKGROUND
  Individuals with Williams syndrome, a neurogenetic condition caused by deletion of a set of genes at chromosomal location 7q11.23, exhibit a remarkable suite of traits including hypersociality with high, nonselective friendliness and low social anxiety, expressive language relatively well-developed but under-developed social-communication skills overall, and reduced visual-spatial abilities. Deletions and duplications of the Williams-syndrome region have also been associated with autism, and with schizophrenia, two disorders centrally involving social cognition. Several lines of evidence have linked the gene GTF2I (General Transcription Factor IIi) with the social phenotypes of Williams syndrome, but a role for this gene in sociality within healthy populations has yet to be investigated.
  
  
  RESULTS
  We genotyped a large set of healthy individuals for two single-nucleotide polymorphisms in the GTF2I gene that have recently been significantly associated with autism, and thus apparently exhibit functional effects on autism-related social phenotypes. GTF2I genotypes for these SNPs showed highly significant association with low social anxiety combined with reduced social-communication abilities, which represents a metric of the Williams-syndrome cognitive profile as described from previous studies.
  
  
  CONCLUSIONS
  These findings implicate the GTF2I gene in the neurogenetic basis of social communication and social anxiety, both in Williams syndrome and among individuals in healthy populations.
authors.affiliation: Department of Biology, Simon Fraser University, 8888 University Drive, Burnaby V5A 1S6, , BC, Canada. crespi@sfu.ca.
authors.forename: Bernard J
authors.initials: BJ
authors.lastname: Crespi
authors.forename: Peter L
authors.initials: PL
authors.lastname: Hurd
mesh_terms: D001007:Anxiety / Q000235:genetics; D003071:Cognition; D005260:Female; D060005:Genotyping Techniques; D006801:Humans; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011581:Psychological Tests; D012919:Social Behavior; D011795:Surveys and Questionnaires; D019473:Transcription Factors, TFII / Q000235:genetics*; D018980:Williams Syndrome / Q000235:genetics* / Q000523:psychology*
chemical_list: C104259:GTF2I protein, human; D019473:Transcription Factors, TFII