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Much has been uncovered about the genetics of schizophrenia but, as with so much of science, this has led to more questions.[Corvin & Sullivan, 2016] The field of schizophrenia genetics still faces challenges:[Corvin & Sullivan, 2016]
- There are now many known susceptibility loci for schizophrenia. Elucidating how these genes interact and potentially form molecular pathways in the aetiology of schizophrenia is the next step.
- Much of the illness susceptibility of schizophrenia is still unexplained. Are there rare risk variants that are still to be uncovered?
- Most of the known susceptibility loci for schizophrenia are likely to have subtle effects. There are likely to be much rarer (not yet discovered) mutations that have a large impact on protein function. These highly penetrant mutations are likely to be much easier to place within hypothetical models of disease pathology, and so will complement ongoing efforts to understand the underlying causes of schizophrenia.
Reference:
Corvin A, Sullivan PF. What next in schizophrenia genetics for the Psychiatric Genomics Consortium? Schizophr Bull 2016; 42 (3): 538–541.