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A large group of collaborating scientists used data from the Simons Simplex Collection, a project that extensively characterized 2576 autism simplex families, the largest such cohort amassed to date and for which the data is now available in a permanent repository.
The availability of this vast collection allowed the researchers to create phenotypic subgroups. In addition to the whole sample, this resulted in 11 subgroups of patients with similar diagnostic, IQ and symptom profiles. They then analyzed the genotypic data in an attempt to discover common genetic variants that confer risk for autism spectrum disorder.
Their results did not identify any genome-wide significant associations in the overall sample or in the phenotypic subgroups. This means that the extreme clinical variability observed among patients with autism spectrum disorder does not closely reflect common genetic variation.
"This study did not provide good evidence that selecting patients with similar symptoms results in a greater ability to find autism genes," said Dr. John Krystal, Editor of Biological Psychiatry. "This might suggest that some of the clinical variability in autism arises from causes other than genetic vulnerability, such as epigenetic changes or other responses to the environment."
http://www.eurekalert.org/pub_releases/2015-04/e-its042015.php