Genetische variaties met verhoogd risico op schizofrenie

Conflict of interest: none declared. Financial support: none declared.

• Schizophrenia is a complex genetic disorder which is caused by multiple heritable and environmental factors.

• Large-scale screening of the entire DNA has recently resulted in the identification of several DNA variants associated with schizophrenia.

• The variants identified are single nucleotide polymorphisms (SNPs) with a high frequency in the population and a small effect, and rare copy number variants (CNVs) with larger effects.

• Variants are not unique to patients, and appear to be involved in multiple psychiatric disorders. The underlying biological mechanisms are not evident.

• Together, the identified variants only explain a fraction of all cases of the disease.

• Genetic testing of family members of patients may become feasible in the near future. For other clinical applications additional variants need to be identified first.