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Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder. Aberrant DNA methylation has been observed in ASD but the mechanisms remain largely unknown. Here, we employed discordant monozygotic twins to investigate the contribution of DNA methylation to ASD etiology. Genome-wide DNA methylation analysis was performed using samples obtained from five pairs of ASD-discordant monozygotic twins, which revealed a total of 2,397 differentially methylated genes. Further, such gene list was annotated with Kyoto Encyclopedia of Genes and Genomes and demonstrated predominant activation of neurotrophin signaling pathway in ASD-discordant monozygotic twins. The methylation of SH2B1 gene was further confirmed in the ASD-discordant, ASD-concordant monozygotic twins, and a set of 30 pairs of sporadic case-control by bisulfite-pyrosequencing. The results showed that there was a greater DNA methylation difference in ASD-discordant monozygotic twins than ASD-concordant monozygotic twins. Further, verification of the Chr.16:28856743 of SH2B1 showed significant differences in DNA methylation between case and control. These results suggest abnormal methylation of SH2B1 is associated with ASD etiology. Our data suggest that it might be worthwhile to further explore the functions of SH2B1 and related genes of neurotrophin signaling pathway in ASD.

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Previous school bullying was associated with increased risk of depression in students. However, little was known about the role of the Big Five personality traits in this association. The purpose of this study was to investigate the possible mediation by the Big Five personality traits in this association in a large group of Chinese college students, and to provide help for educators to prevent students from serious psychological and mental diseases caused by school bullying. Random stratified cluster sampling was used to survey 2152 college students ranging from freshmen to seniors at three universities in Qiqihar city, Heilongjiang Province, China. The risk factors for previous school bullying included gender, living expenses per month, caregivers, parents often quarreling, and divorced parents. Males were more likely to be bullied at school than females. The influencing factors of depression include gender, caregivers, living expenses per month, frequent parents quarreling, and parental divorce. Females were more prone to depression than males. Depression was significantly correlated with all dimensions of school bullying and the Big Five personality traits (p < 0.05). The Big Five personality traits were found to play a significant mediating role between depression and school bullying in up to 45% of cases involving depression. Our major findings highlighted the promising role of personality-based intervention measures in reducing the risk of depression associated with school bullying in Chinese students.