Rare Copy Number Variants Shared in Autism and Schizophrenia

Abstract

Recently the large scale gathering of copy number variant (CNV) data from patients with schizophrenia (SCZ) and autism (ASD) has yielded new genetic data through which we can examine these disorders. One of the repercussions has been a suggested similarity between autism and schizophrenia, in that they may share some genetic aetiology (Corvin, 2010). While some CNVs have been shown to overlap between ASD and SCZ (Toro et al., 2010), many rare CNVs have been discarded due to low sample numbers. In this study we provide a comprehensive overview of all CNVs associated with ASD and SCZ, including rare CNVs and examine the genes found in the CNVs. Ultimately I provide an extensive overlap of the genes found in CNVs detected in ASD and SCZ. Furthermore, we present some trends in our data by examining the gene ontology and expression of the overlapped CNVs. Using a literature search in PubMed, recently published CNV data was accumulated from 2008 onwards for ASD and SCZ, including rare CNVs previously ignored. This yielded a list of 939 and 852 genes for ASD and SCZ respectively, of which 130 were shared. While the trends in the data are difficult to pin point, some suggested shared molecular functions, processes and cellular components are provided with supporting background literature. These include, but are not limited to, a discussion of neurodevelopment and cell adhesion processes. What this study illustrates is a potentially shared genetic aetiology between ASD and SCZ. This converges with a broader hypothesis suggesting that many psychiatric disorders share genetic variants which lay a framework for later psychiatric dysfunction (Craddock & Owen, 2010). This study also provides new genetic data to examine the relationship between ASD and SCZ.