From laboratory to the bedside: Genetic findings in schizophrenia

  • Johannes L. Roos Department of Psychiatry, University of Pretoria


The complex genetic architecture of schizophrenia is briefly described with reference to two contrasting (but conceptually related) hypotheses. There is reference to genome-wide association studies (GWAS) and the major histocompatibility complex (MHC) locus on chromosome 6 and schizophrenia. Recent findings regarding structural alleles in the classical complement cascade, related to the MHC and implicated in the elimination and ‘pruning of synapses’, form part of the pathogenesis of schizophrenia. Moving closer to the bedside of schizophrenia patients, the following research findings in the Afrikaner population are discussed:

  • micro deletion at 22q11.2 chromosome as a specific subtype of schizophrenia;
  • phenotypical characteristics of schizophrenia patients with spontaneous gene mutations;
  • paternal age-related schizophrenia (PARS) and social functioning early and later in the lives of these patients;
  • increased risk of suicide in schizophrenia patients with linkage to chromosome 13q and how mortality rates can be decreased in these patients.

Author Biography

Johannes L. Roos, Department of Psychiatry, University of Pretoria
Head of the Department
Original Research