The Correlation Analysis Between Autism And Brain Development As Well As Genomic Imprinting

Autism Spectrum Disorders(ASD),also referred to autism,are a group of neurodevelopmental disorders characterized by impairments in social and verbal communication,and the presence of restricted interests,stereotyped and repetitive behaviors.Epidemiological studies estimate the prevalence of ASD up to 1%.In recent years,advances in genomics technologies and large cohort studies have contributed to the discovery of susceptibility genes in ASD,the number of which has exceeded 1000 until now.However,single gene mutations merely account for 1% to 2% of cases,revealing the extreme genetic heterogeneity of ASD.Genomic imprinting is an epigenetic phenomenon by which genes can be expressed in a parent-of-origin-specific manner.It has been established that many imprinted genes play a crucial role in maintaining placental development,regulating fetal growth,metabolism,neurological function,and social behavior.Studies have found that genetic and epigenetic disturbances in expression of imprinted genes can cause some congenital disorders,including autism.Neuropathologic studies of ASD showed distinctive types of malformations,including cortical dysplasia,heterotopia,and neuromorphological abnormalities.The brain magnetic resonance imaging studies have found that enlargement of brain volume is associated with the onset of autism and the severity of social deficits.In this study,we aims to explore autism from the perspective of brain development and genome imprinting.First,we systematically collected all the autism related genes and imprinted genes that had been reported in the literature.1905 autism-related genes and 229 imprinted genes are located on the chromosomes to visualize them.Sliding window and statistical analysis showed that the imprinted genes were related to autism-related genes on chromosomes.Second,we reanalyzed the microarray data of normal human brain,and constructed the coordinate system for spatiotemporal expression of genes during brain development.We further intersected autism related genes and imprinted genes with brain differentially expressed genes,12 common genes were obtained,including GABRA5,GABRG3,GABRB3,NTM,SNRPN,OTX1,FOXG1,TSHZ3,CDH18,GATM,HTR2 A and NLRP2.Finally,we built a simple,friendly and easy-touse database,namely Brain Genomics Hub,based on the spatio-temporal expression data of the brain to facilitate the inquiry of gene expression data as well as the research of brain development-related diseases.