作者
Yan Sun, Xueming Yao, Michael E March, Xinyi Meng, Junyi Li, Zhi Wei, Patrick MA Sleiman, Hakon Hakonarson, Qianghua Xia, Jin Li
发表日期
2019/8/9
期刊
Frontiers in genetics
卷号
10
页码范围
707
出版商
Frontiers Media SA
简介
Autism spectrum disorder (ASD) is a complex neuropsychiatric disorder. A number of genetic risk loci have been identified for ASD from genome-wide association studies (GWAS); however, their target genes in relevant tissues and cell types remain to be investigated. The frontal cortex is a key region in the human brain for communication and cognitive function. To identify risk genes contributing to potential dysfunction in the frontal cortex of ASD patients, we took an in silico approach integrating multi-omics data. We first found genes with expression in frontal cortex tissue that correlates with ASD risk loci by leveraging expression quantitative trait loci (eQTLs) information. Among these genes, we then identified 76 genes showing significant differential expression in the frontal cortex between ASD cases and controls in microarray datasets and further replicated four genes with RNA-seq data. Among the ASD GWAS single nucleotide polymorphisms (SNPs) correlating with the 76 genes, 20 overlap with histone marks and 40 are associated with gene methylation level. Thus, through multi-omics data analyses, we identified genes that may work as target genes of ASD risk loci in the brain frontal cortex.
引用总数
2020202120222023202418252
学术搜索中的文章
Y Sun, X Yao, ME March, X Meng, J Li, Z Wei… - Frontiers in genetics, 2019