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Autism genome project identifies genetic variants that may make people susceptible to disorder

An international consortium of researchers from more than 70 universities, including the University of Utah, has reported that a study of nearly 2,300 people supports the growing consensus that autism is caused in part by rare genetic changes called copy number variants (CNVs).

The study findings, constituting the results of the second phase of the Autism Genome Project (AGP), were published in Nature on June 9, 2010. The study also identifies several new genes and pathways that appear to contribute to the susceptibility to autism and related autism spectrum disorders (ASDs). Autism Speaks, an autism science and advocacy organization, is a major sponsor of the AGP.

Hilary Coon, Ph.D., a lead author on the study and research professor of psychiatry at the University of Utah School of Medicine, said while research shows scientists are making progress in understanding the causes of autism, it is increasingly clear that autism is a multifaceted disorder with both genetic and environmental causes. "We are whittling away at it," Coon said. "But a brain-related disorder, such as autism, is amazingly complex. It's not really one entity."

Autism is a neurobiological disorder that inhibits a person's ability to communicate and develop social relationships, and is often accompanied by behavioral challenges. Autism spectrum disorders are diagnosed in one in 110 children in the United States, affecting four times as many boys as girls. The prevalence of autism increased 57 percent from 2002 to 2006. The Centers for Disease Control and Prevention have called autism a national public health crisis whose cause and cure remain unknown.

The researchers enlisted 996 people with autism and 1,287 without the disorder – including participants from more than180 Utah families. The study focused on more than 100 genes previously implicated in ASD and intellectual disability, and found that those with autism carried a higher number of rare CNVs – small deletions or additions to the DNA sequence – than those without the disorder. The researchers found that while some of these CNVs are inherited, others are new variations in individuals with autism. The specific consequences of each CNV aren't known, but in those with autism they may alter the function of those genes.

These CNVs are found in an estimated 1 percent of the population and could account for up to 3.3 percent of autism cases, according to the study. While that is a relatively small percentage, it represents many thousands of people with the disorder.

Along with the CNVs, the study also identified three new genes and the chromosomal locations (loci) of two other genes the researchers believe make individuals more susceptible to autism. These genes – SHANK2, SYNGAP1, DLGAP2 and the DDX53–PTCHD1 loci (on the X chromosome) – belong to synaptic pathways that allow neurons to conduct electrical and chemical signals and are involved in cellular proliferation and intracellular signaling. Identifying these genes could aid in the search for new therapies to treat autism. But even if it proves possible to develop new drugs that target those genes, it will take many years to accomplish.

The Autism Genome Project (AGP, consists of 120 scientists from more than 60 institutions and 11 countries who formed a first-of-its-kind autism genetics consortium. The AGP began in 2002 when researchers from around the world decided to come together and share their samples, data, and expertise to facilitate the identification of autism susceptibility genes. This continuing collaboration and its unique scientific assets (e.g., large sample set and multidisciplinary expertise) created scientific opportunities that otherwise would not exist. The AGP is well positioned to build on these extraordinary assets as the field of autism genetics further investigates rare variants, requiring larger sample sets to identify more CNVs. Additional support for Phase 2 of the AGP was provided by the National Institutes of Health. The first phase of the AGP, the assembly of the largest-ever autism DNA collection and whole genome linkage scan, was funded by Autism Speaks and the National Institutes of Health and completed in 2007.

William M. McMahon, professor and chairman of the University of Utah Department of Psychiatry, and Judith Miller PhD, assistant professor of psychiatry also are investigators in the AGP and contributed to the Nature study.

Along with Autism Speaks, the following organizations provide funding for the AGP: the Medical Research Council, Canadian Institutes of Health Research, Health Research Board (Ireland), Genome Canada, the Hilibrand Foundation, and Autistica.

Autism Speaks is North America's largest autism science and advocacy organization. Since its inception in 2005, Autism Speaks has made enormous strides, committing over $142.5 million to research through 2014 and developing innovative new resources for families. The organization is dedicated to funding research into the causes, prevention, treatments and a cure for autism; increasing awareness of autism spectrum disorders; and advocating for the needs of individuals with autism and their families. In addition to funding research, Autism Speaks also supports the Autism Treatment Network, Autism Genetic Resource Exchange and several other scientific and clinical programs. Autism Speaks has played a critical role in securing federal legislation to advance the government's response to autism, and has successfully advocated for insurance reform to cover behavioral treatments. Each year Walk Now for Autism Speaks events are held in more than 80 cities across North America. To learn more about Autism Speaks, please visit

Phil Sahm | EurekAlert!
Further information:

Further reports about: ASD Autism CNV DNA Genom Nature Immunology Utah autism spectrum disorders health services

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