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
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.