Searching for genetic contributions to schizophrenia

Author: D. Valle
Submitted: Sunday 12th of September 2010 09:41:05 AM
Submitted by: egf
Educational levels: expert, qc3


Schizophrenia (Sz) is a common (~1%), chronic, debilitating neuropsychiatric disorder with recognized onset late in the second decade or early in the third decade of life. Symptoms include hallucinations, delusions, paranoia, anhedonia and lack of motivation and may vary substantially from individual to individual and over the patient’s lifetime. Despite clear evidence that genetics plays a major role in the risk for Sz (s = 10; twin concordance for MZ = ~50% vs ~10% for DZ), identification of genes and alleles contributing risk for Sz has been slow. Some possible reasons for the slow pace include diagnostic uncertainty, phenotypic and genetic heterogeneity and lack of ready access to the affected tissue. Any molecular hypothesis for the pathogenesis of Sz will have to include an explanation for the relatively high incidence despite low reproductive fitness and for the relatively normal neuropsychiatric function in the first two decades of life. Despite these problems and challenges, there is reason for optimism based on results of the last few years. Several genes and/or genomic regions have been implicated in multiple studies and recent results show that relatively large, de novo CNVs involving ~ 6 genomic regions play a role at least in a small fraction of cases. Additionally, more sophisticated approaches to evaluating phenotype and relating this information to genotype show promise. For all these reasons, it is not unreasonable to expect that the next few years will show great progress in our understanding of this challenging disorder.


Similar resources


IMS Metadata


D. Valle. Searching for genetic contributions to schizophrenia. EUROGENE portal. September 2010. online:


Terms of use

This work is licensed under a Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License. Read more.