Reverse Pathway Genetic Approach Identifies Epistasis in Autism Spectrum Disorders

PLoS Genet. 2017 Jan 11;13(1):e1006516. doi: 10.1371/journal.pgen.1006516. eCollection 2017 Jan.

Abstract

Although gene-gene interaction, or epistasis, plays a large role in complex traits in model organisms, genome-wide by genome-wide searches for two-way interaction have limited power in human studies. We thus used knowledge of a biological pathway in order to identify a contribution of epistasis to autism spectrum disorders (ASDs) in humans, a reverse-pathway genetic approach. Based on previous observation of increased ASD symptoms in Mendelian disorders of the Ras/MAPK pathway (RASopathies), we showed that common SNPs in RASopathy genes show enrichment for association signal in GWAS (P = 0.02). We then screened genome-wide for interactors with RASopathy gene SNPs and showed strong enrichment in ASD-affected individuals (P < 2.2 x 10-16), with a number of pairwise interactions meeting genome-wide criteria for significance. Finally, we utilized quantitative measures of ASD symptoms in RASopathy-affected individuals to perform modifier mapping via GWAS. One top region overlapped between these independent approaches, and we showed dysregulation of a gene in this region, GPR141, in a RASopathy neural cell line. We thus used orthogonal approaches to provide strong evidence for a contribution of epistasis to ASDs, confirm a role for the Ras/MAPK pathway in idiopathic ASDs, and to identify a convergent candidate gene that may interact with the Ras/MAPK pathway.

MeSH terms

  • Autism Spectrum Disorder / genetics*
  • Cell Line
  • Epistasis, Genetic*
  • Female
  • Genes, Modifier
  • Genome-Wide Association Study
  • Humans
  • MAP Kinase Signaling System / genetics*
  • Male
  • Neural Stem Cells / metabolism
  • Polymorphism, Single Nucleotide
  • Receptors, G-Protein-Coupled / genetics
  • Receptors, G-Protein-Coupled / metabolism
  • ras Proteins / genetics*

Substances

  • Receptors, G-Protein-Coupled
  • ras Proteins