Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism

作者：Yu Li; Wu YiMing; Wu Bai-Lin^*

来源：Science China Life Sciences, 2015, 58(10): 958-967.

DOI：10.1007/s11427-015-4941-1

• autism spectrum disorder
• genetic architecture
• genomic disorder
• gene mutation
• copy number variants
• single nucleotide variants
• genetic pathways
• epigenetic influence
• DNA methylation
• chromatin remodeling
• long non-coding RNAs
• environment exposure
• immune dysregulation
• gastrointestinal microbiota

Autism spectrum disorder (ASD) is a spectral neurodevelopment disorder affecting approximately 1% of the population. ASD is characterized by impairments in reciprocal social interaction, communication deficits and restricted patterns of behavior. Multiple factors, including genetic/genomic, epigenetic/epigenomic and environmental, are thought to be necessary for autism development. Recent reviews have provided further insight into the genetic/genomic basis of ASD. It has long been suspected that epigenetic mechanisms, including DNA methylation, chromatin structures and long non-coding RNAs may play important roles in the pathology of ASD. In addition to genetic/genomic alterations and epigenetic/epigenomic influences, environmental exposures have been widely accepted as an important role in autism etiology, among which immune dysregulation and gastrointestinal microbiota are two prominent ones.

• 出版日期2015-10
• 单位复旦大学