Intriguingly, the newly-identified SNP is located in a nearly 600 kb region that confers risk of schizophrenia and bipolar disorder when duplicated5, 6, 28. Copy number gain of the region also is associated with autism6, 43-45, reduced head circumference46, 47, and low BMI47. We obtained large data sets to examine association of rs4583255[T] with both autism and BMI. Based on 3,672 cases, 16,103 controls and 4,206 unaffected family members from the Autism Genetic Resource Exchange (AGRE), the Autism Genome Project (AGP) and nine European study groups (Supplementary Table 2), we found no evidence of association with autism spectrum disorder (ASD), strict autism or multiplex ASD (ASD, OR = 1.00, P = 0.98; strict autism, OR = 1.02, P = 0.66; multiplex ASD, OR = 1.07, P = 0.22; Supplementary Table 6), although power to detect association at the OR found in the follow-up psychosis samples was modest (at a 0.05 significance level, power was about 57% for ASD, 42% for strict autism, and 23% for multiplex ASD). In contrast, we found significant association of rs4583255[T] with low BMI in the
