Objectives: The purpose of this study is to assess whether the PRKCB1 gene variant associated with autism provides broad contributions to the pathogenesis of the disease or instead contributes to a specific component.
Methods: Marker variables from these 4 principal components were correlated with PRKCB1 genotypes at SNP rs3785392, previously found most associated with autistic disorder (Lintas et al, Mol Psychiatry E-pub March 4, 2008), in 201 ASD patients.
Results: The G allele at rs3785392 is significantly associated with the marker variable for component IV, verbal and vocal stereotypies (chi squared = 7.16, 2 df, P<0.05). Also motor stereotypies, another variable in component IV, display a non-significant trend in the same direction (chi squared = 4.53, 2 df, P=0.1). There is no association between rs3785392 and marker variables for components IA (sleep disorders), IB (hyperactivity), II (history of allergies) and III (level of verbal language development).
Conclusions: PRKCB1 gene variants associated with autism influence the disease phenotype in the area of component IV, especially in reference to stereotypic behaviors.