Thursday, July 14, 2011

Study : The ongoing dissection of the genetic architecture of Autistic Spectrum Disorder

A paper was published this week that reviews the history and current status of the search for the genetic component of autism.  Since the the genetics of autism has been getting a lot of attention this week, I though it might be appropriate to point this one out.  If you have any questions about the search for the elusive genetic component of autism, you will want to read this paper.

The paper is open access so the full text is freely available.

The ongoing dissection of the genetic architecture of Autistic Spectrum Disorder
Rob F Gillis and Guy A Rouleau

Abstract
The development of robust, non-hypothesis based case/control studies has led to a large push forward towards identifying common genetic variants that contribute to complex traits. However, despite many attempts, the search for common disease-predisposing variants in childhood developmental disorders has largely failed. Recently, a role for rare causal variants and de novo mutations is emerging in the genetic architecture of some of these disorders, particularly those which incur a large degree of selection against the phenotype. Here we examine these data as well as use classic genetic epidemiological approaches to gain insights into the genetic architecture of ASD. Future studies using next generation sequencing should elucidate the precise role de novo mutations play in disorders traditionally thought to have resulted from polygenic or common disease, common variants inheritance.

Gillis, Rob F, and Guy a Rouleau. 2011. “The ongoing dissection of the genetic architecture of Autistic Spectrum Disorder.” Molecular autism 2:12.
Link

2 comments:

  1. The genetics of autism has been getting a lot of attention for many years. No specific gene identified in any meaningful way as a causal factor in relation to autism despite a the preponderance of autism research dollars going to genetic research over that time.

    I believe that genetic research should continue but it should not continue to dominate autism research funding to the detriment of environmental autism research funding.

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  2. I would agree with you. Research into the genetics of autism has mostly been an expensive failure and it is time to start looking in other areas.

    But in order to understand why that is the case, you have to understand what research has been done into the genetics of autism and what it found. Which is why I likes this paper - it gives a good background on the history and lays out what the current thoughts are.

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