Yu Li, Wu YiMing, Wu Bai-Lin
Children's Hospital of Fudan University, Institutes of Biomedical Science, Shanghai Medical College of Fudan University, Shanghai, 200032, China.
Claritas Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Sci China Life Sci. 2015 Oct;58(10):958-67. doi: 10.1007/s11427-015-4941-1.
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.
自闭症谱系障碍（ASD）是一种影响约1%人口的谱系神经发育障碍。ASD的特征是社交互动障碍、沟通缺陷和行为模式受限。包括遗传/基因组、表观遗传/表观基因组和环境等多种因素被认为是自闭症发展所必需的。最近的综述进一步深入了解了ASD的遗传/基因组基础。长期以来一直怀疑表观遗传机制，包括DNA甲基化、染色质结构和长链非编码RNA可能在ASD的病理学中起重要作用。除了遗传/基因组改变和表观遗传/表观基因组影响外，环境暴露已被广泛认为在自闭症病因中起重要作用，其中免疫失调和胃肠道微生物群是两个突出因素。
