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Genetic risk for autism stems mostly from common genes
Date:7/20/2014

PITTSBURGHUsing new statistical tools, Carnegie Mellon University's Kathryn Roeder has led an international team of researchers to discover that most of the genetic risk for autism comes from versions of genes that are common in the population rather than from rare variants or spontaneous glitches.

Published in the July 20 issue of the journal "Nature Genetics," the study found that about 52 percent of autism was traced to common genes and rarely inherited variations, with spontaneous mutations contributing a modest 2.6 percent of the total risk. The research team from the Population-Based-Autism Genetics and Environment Study (PAGES) Consortium used data from Sweden's universal health registry to compare roughly 3,000 subjects, including autistic individuals and a control group. The largest study of its kind to date, the team also showed that inheritability outweighs environmental risk.

"From this study, we can see that genetics plays a major role in the development of autism compared to environmental risk factors, making autism more like height than we thought many small risk factors add up, each pushing a person further out on the spectrum," said Roeder, professor of statistics and computational biology at Carnegie Mellon and a leading expert on statistical genomics and the genetic basis of complex disease. "These findings could not have happened without statistics, and now we must build off of what we learned and use statistical approaches to determine where to put future resources, and decide what is the most beneficial direction to pursue to further pinpoint what causes autism."

Although autism is thought to be caused by an interplay of genetic and other factors, including environmental forces, consensus on their relative contributions and the outlines of its genetic architecture has remained elusive, until now. With this new study, the researchers believe that autism genetics is beginning to catch up.


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Contact: Shilo Rea
shilo@cmu.edu
412-268-6094
Carnegie Mellon University
Source:Eurekalert  

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