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Genetics and gene-environment interactions in a Korean epidemiological sample of autism

Young Shin Kim, M.D., M.P.H., Ph.D.
Yale University

Large-scale population studies are valuable for elucidating gene-environment interactions that contribute to the risk of autism. Young Shin Kim and her colleagues at Yale University are assembling a large-scale collection of autism-related data from a group of children in South Korea who show a variety of symptoms across the autism spectrum.

Koreans originate from a single ancestral population, and they rarely marry people of other ethnicities, so Kim’s sample is a group of Asian children who are genetically similar. Genetic differences identified in Korean children with autism are more likely to be due to factors that contribute to the disorder than to normal variation across ethnicities.  

So far, the researchers have collected data on autism-related features and environmental risk, along with saliva samples, from 8,000 children. The study is the first to provide this sort of resource for discovering both common and rare genetic variants that either cause or increase the risk of autism. The study is also expected to provide unique opportunities for understanding how specific genes contribute to autism and to the distribution of traits associated with the disorder. This may open up the possibility of uncovering gene-environment interactions that lead to autism spectrum disorders.