Autism risk factors: genes, environment, and gene-environment interactions

TLDR

Recent genetic research has advanced understanding of autism, yet many questions persist, and evidence for environmental contributions underscores the need to investigate gene–environment interactions. This review aims to synthesize genetic and epidemiological evidence that autism arises from combined genetic and environmental factors. The authors review genetic studies and epidemiological investigations to identify key findings. Identification of specific autism-associated alleles provides critical pieces to the autism puzzle.

Abstract

The aim of this review is to summarize the key findings from genetic and epidemiological research, which show that autism is a complex disorder resulting from the combination of genetic and environmental factors. Remarkable advances in the knowledge of genetic causes of autism have resulted from the great efforts made in the field of genetics. The identification of specific alleles contributing to the autism spectrum has supplied important pieces for the autism puzzle. However, many questions remain unanswered, and new questions are raised by recent results. Moreover, given the amount of evidence supporting a significant contribution of environmental factors to autism risk, it is now clear that the search for environmental factors should be reinforced. One aspect of this search that has been neglected so far is the study of interactions between genes and environmental factors.