Target genes of autism risk loci in brain frontal cortex

Yan Sun, Xueming Yao, Michael E. March, Xinyi Meng, Junyi Li, Zhi Wei, Patrick M.A. Sleiman, Hakon Hakonarson, Qianghua Xia, Jin Li

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


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.

Original languageEnglish (US)
Article number707
JournalFrontiers in Genetics
Issue numberJUL
StatePublished - 2019

All Science Journal Classification (ASJC) codes

  • Molecular Medicine
  • Genetics
  • Genetics(clinical)


  • Autism
  • Brain frontal cortex
  • DNA methylation
  • EQTL
  • GWAS loci
  • Histone modification
  • Target gene


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