Genetic association and post-mortem brain mRNA analysis of DISC1 and related genes in schizophrenia

Abstract Convergent evidence from genetic linkage, genetic association and biological studies implicates the Disrupted in schizophrenia 1 ( DISC1 ) gene in the etiology and pathophysiology of schizophrenia. We conducted genetic association studies in matched case-control and family sample sets ( N  = 117 families; N  = 210 case-control pairs), testing polymorphisms across DISC1 and DISC1 interacting genes: LIS1, NUDEL, FEZ1 and PDE4B . We found that DISC1 variants, particularly in the exon 9/intron 9/intron 10 region of the gene, may be associated with risk for schizophrenia in our sample population. There was no strong evidence for association with LIS1, NUDEL, FEZ1 and PDE4B . Gene–gene interaction analyses and mRNA quantification in post-mortem brains from schizophrenia patients and control subjects did not reveal significant differences.