The use of functional imaging to evaluate the neurobiology of putative schizophrenia susceptibility genes

Noninvasive functional neuroimaging techniques are leading the way to greater knowledge about the neurobiology of the central nervous system and of brain disorders. Combination of this knowledge with information from ascertainment of genetic variation is also allowing evaluation of individual variability in brain function, so-called "imaging genetics". This research field may be particularly relevant for schizophrenia, since earlier genetic linkage and association studies using the clinical phenotype have produced mixed results. Brain imaging phenotypes may help to fill the gap between genes and phenotypic expression in this disorder. This review will consider the evidence showing how genetic variants putatively involved in the pathophysiology of schizophrenia - namely catechol-O-methyltransferase, glutamate metabotrophic receptor 3, Disrupted-in-Schizophrenia-l, brain-derived neurotrophic factor and dysbindin - impact on brain function in healthy subjects and in schizophrenia patients. Furthermore, we will focus on how individual genetic variability potentially modulates the response to antipsychotic treatment in this disorder. The studies reviewed herein suggest that utilisation of brain imaging phenotypes is useful for association studies to reveal the genes potentially involved in explaining risk for schizophrenia as well as for deeper understanding of the pathophysiology and of the individuality of response to pharmacological treatment in this disorder.