Schizophrenia is very complex and not well understood.  Due to negative selection pressure on risk alleles common variants have not been found that can be associated with the risks for developing schizophrenia^. However, copy number variations or CNV’s that have been previously associated with diseases involving mental capacity. Recently two independent large-scale genome-wide studies have been conducted that took approximately 10,000 patients and looked for CNVs associated with schizophrenia analyzing transmissions from parents to children. From that scientist were able to identify 66 de novo CNVs. The CNVs found were tested for accuracy in a sample of 1,433 schizophrenia cases and 33,250 controls. This testing was able to identify 3 deletions within the genome of schizophrenic patients. These finds were then retested, and the same microdeletions have been found.  The deletions found are closely related to schizophrenia and psychoses based on the group sampled. These studies are promising because they are independently conducted and have shown that CNV analysis may be the way to the identify genetic risk s involved in developing schizophrenia.

Works Cited

Stefansson, H., Rujescu, D., Cichon, S. et al. Large recurrent microdeletions associated with schizophrenia. Nature 455, https://doi.org/10.1038/nature07229(2008).