Integrative analysis of shared genetic pathogenesis by autism spectrum disorder and obsessive-compulsive disorder

Biosci Rep. 2019 Dec 20;39(12):BSR20191942. doi: 10.1042/BSR20191942.

Abstract

Many common pathological features have been observed for both autism spectrum disorders (ASDs) and obsessive-compulsive disorder (OCD). However, no systematic analysis of the common gene markers associated with both ASD and OCD has been conducted so far. Here, two batches of large-scale literature-based disease-gene relation data (updated in 2017 and 2019, respectively) and gene expression data were integrated to study the possible association between OCD and ASD at the genetic level. Genes linked to OCD and ASD present significant overlap (P-value <2.64e-39). A genetic network of over 20 genes was constructed, through which OCD and ASD may exert influence on each other. The 2017-based analysis suggested six potential common risk genes for OCD and ASD (CDH2, ADCY8, APOE, TSPO, TOR1A, and OLIG2), and the 2019-based study identified two more genes (DISP1 and SETD1A). Notably, the gene APOE identified by the 2017-based analysis has been implicated to have an association with ASD in a recent study (2018) with DNA methylation analysis. Our results support the possible complex genetic associations between OCD and ASD. Genes linked to one disease are worth further investigation as potential risk factors for the other.

Keywords: Network connectivity analysis; Obsessive-compulsive disorder; autism spectrum disorder; gene expression analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenylyl Cyclases / genetics
  • Antigens, CD / genetics
  • Apolipoproteins E / genetics
  • Autism Spectrum Disorder / genetics*
  • Autism Spectrum Disorder / pathology
  • Cadherins / genetics
  • Female
  • Gene Expression Regulation / genetics
  • Gene Regulatory Networks / genetics
  • Genetic Association Studies*
  • Genetic Predisposition to Disease*
  • Histone-Lysine N-Methyltransferase / genetics
  • Humans
  • Male
  • Molecular Chaperones / genetics
  • Obsessive-Compulsive Disorder / genetics*
  • Obsessive-Compulsive Disorder / pathology
  • Oligodendrocyte Transcription Factor 2 / genetics
  • Receptors, GABA / genetics

Substances

  • Antigens, CD
  • ApoE protein, human
  • Apolipoproteins E
  • CDH2 protein, human
  • Cadherins
  • Molecular Chaperones
  • OLIG2 protein, human
  • Oligodendrocyte Transcription Factor 2
  • Receptors, GABA
  • TOR1A protein, human
  • TSPO protein, human
  • Histone-Lysine N-Methyltransferase
  • Setd1A protein, human
  • Adenylyl Cyclases
  • adenylyl cyclase 8