Cognitive-behavioral phenotypes of Williams syndrome are associated with genetic variation in the GTF2I gene, in a healthy population.

Under a codominant model, genotypes of the GTF2I single nucleotide polymorphisms rs4717907 and rs13227433 were not significantly different by ANOVA for the Social, Communication, or Social Anxiety subscale scores, or for total Autism or total Schizotypy, although the differences for Communication (for rs13227433) and for Social Anxiety (for both SNPs) approached significance (0.05 < P <0.10) (Table 1 ).

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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.

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