Putative diffusion tensor neuroimaging endophenotypes in schizophrenia: A review of the early evidence

Abstract

Although schizophrenia has a high heritability, the genetic effects conferring diathesis to schizophrenia are thought to be complex and underlain by multifactorial polygenic inheritance. 'Endophenotypes', or 'intermediate phenotypes', are narrowed constructs of genetic risk that are assumed to be more proximal to the gene effects in the disease pathway than clinical phenotypes. A current aim in schizophrenia research is to identify promising putative endophenotypes for use in molecular genetics studies. Recently, much of the focus has been on neurocognitive, conventional T1-weighted structural MRI, functional MRI and electrophysiological endophenotypes. Diffusion tensor imaging has emerged as another important structural neuroimaging modality in the aim to identify abnormalities in brain connectivity and diffusivity in schizophrenia, and abnormalities detected via this method may be promising candidate endophenotypes. In this article, we present the first comprehensive review of the early evidence that qualifies diffusion tensor abnormalities as potentially appropriate endophenotypes of schizophrenia. © 2011 Future Medicine Ltd.