Imaging genetics in autism spectrum disorders: Linking genetics and brain imaging in the pursuit of the underlying neurobiological mechanisms

Prog Neuropsychopharmacol Biol Psychiatry. 2018 Jan 3;80(Pt B):101-114. doi: 10.1016/j.pnpbp.2017.02.026. Epub 2017 Mar 16.


Autism spectrum disorders (ASD) include a wide range of heterogeneous neurodevelopmental conditions that affect an individual in several aspects of social communication and behavior. Recent advances in molecular genetic technologies have dramatically increased our understanding of ASD etiology through the identification of several autism risk genes, most of which serve important functions in synaptic plasticity and protein synthesis. However, despite significant progress in this field of research, the characterization of the neurobiological mechanisms by which common genetic risk variants might operate to give rise to ASD symptomatology has proven to be far more difficult than expected. The imaging genetics approach holds great promise for advancing our understanding of ASD etiology by bridging the gap between genetic variations and their resultant biological effects on the brain. This paper provides a conceptual overview of the contribution of genetics in ASD and discusses key findings from the emerging field of imaging genetics.

Keywords: Autism; Autism spectrum disorder; Genes; Imaging genetics; Neuroimaging.

Publication types

  • Review

MeSH terms

  • Autism Spectrum Disorder / diagnostic imaging*
  • Autism Spectrum Disorder / genetics*
  • Brain / diagnostic imaging*
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Humans
  • Microarray Analysis
  • Molecular Biology
  • Neuroimaging*