Common Gene Variants Linked to Autism

New research has found that the majority of the genetic risk for autism is due to a common genetic variation, rather than rare or spontaneous mutations. The study was funded by the National Institutes of Health’s National Institute of Mental Health, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and the National Institute on Neurological Disorders and Stroke.

Joseph D. Buxbaum, PhD, from the Icahn School of Medicine at Mount Sinai, and colleagues of the Population-Based Autism Genetics and Environment Study (PAGES) Consortium analyzed data on 3,000 patients with a diagnosis of autism from Sweden’s universal health registry with matched controls; a parallel study of 1.6 million Swedish families was also conducted to evaluate factors such as paternal age at time of birth and parental psychiatric history. Approximately 52% of the risk for autism was linked to a common but rare inherited gene variation, while spontaneous mutations accounted for only 2.6% of total risk.

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The researchers are currently working to identify specific genetic risk factors in the sample, including deletions and duplications of genetic material and spontaneous mutations to better understand the relationship between common and spontaneous genetic factors.

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