Genome-Wide Association Studies of Autism

Abstract Autism is a complex disease with many genetic factors contributing to the variable phenotype presentation. Genome-wide association studies (GWAS) using large cohorts and dense datasets have revealed a myriad of genes implicated in autism. Several of these genes belong to common biological pathways and gene networks that converge on potential therapeutic targets. In this regard, CACNA, GRM, CNTN, ubiquitin, and SLIT gene families have shown promising variants in association with autism and related neurodevelopmental disorders. Both common and rare variants reside on these genes discovered primarily by single nucleotide polymorphism (SNP) arrays and whole exome sequencing. The ability to examine large cohorts through unbiased screening and statistical testing of allele frequencies between cases, families, and controls through GWAS will continue to elucidate and clarify the puzzle of autism and inform clinical care.

http://link.springer.com/10.1007/s40473-014-0023-0

Source: Current Behavioral Neuroscience Reports - October 23, 2014 Category: Neuroscience Source Type: research