Genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism.
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.
Children's Hospital of Fudan University, Institutes of Biomedical Science, Shanghai Medical College of Fudan University, Shanghai, 200032, China.
Li
L
Yu
Children's Hospital of Fudan University, Institutes of Biomedical Science, Shanghai Medical College of Fudan University, Shanghai, 200032, China.
YiMing
Y
Wu
Children's Hospital of Fudan University, Institutes of Biomedical Science, Shanghai Medical College of Fudan University, Shanghai, 200032, China. Bai-Lin.Wu@childrens.harvard.edu.|Claritas Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA. Bai-Lin.Wu@childrens.harvard.edu.
Bai-Lin
BL
Wu
D001321:Autistic Disorder / Q000209:etiology* / Q000235:genetics*; D042002:Chromatin Assembly and Disassembly; D056915:DNA Copy Number Variations; D004781:Environmental Exposure; D044127:Epigenesis, Genetic; D006801:Humans; D020407:Internet; D009154:Mutation; D062085:RNA, Long Noncoding / Q000235:genetics
D062085:RNA, Long Noncoding
DNA methylation; autism spectrum disorder; chromatin remodeling; copy number variants; environment exposure; epigenetic influence; gastrointestinal microbiota; gene mutation; genetic architecture; genetic pathways; genomic disorder; immune dysregulation; long non-coding RNAs; single nucleotide variants