Gregory, Connelly et al. assayed multiple CpG sites within two CpG islands on OXTR and found that only site -934 methylation was both significantly negatively associated with gene expression in human cortex, suggesting a functional role in regulating gene transcription, and highly variable and elevated in both brain and blood of individuals with autism, suggesting this marker is indicative of phenotypic variability and conserved across tissues27. The gene discussed is OXTR; the disease is autism.