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Schizophrenia is a neuropsychiatric disorder characterized by recurrent episodes of psychosis, including hallucinations, delusions, and disorganized thinking. Given its familial patterns, researchers are increasingly focusing on genetic testing to identify risk factors.
Recent genomic studies have pinpointed nearly 300 common genetic variants and over 20 rare variants as significant risk factors for schizophrenia.
Patrick Sullivan, a prominent figure from The Royal Australian and New Zealand College of Psychiatrists (FRANZCP) and the Yeargan Distinguished Professor of Psychiatry and Genetics at the UNC School of Medicine, alongside researchers from the Karolinska Institute in Stockholm, have crafted a detailed overview of the genetics of schizophrenia.
Their review, published in Nature Reviews Neuroscience, encompasses findings from extensive genome-wide association studies, whole-exome sequencing, and other analyses.
Simultaneously, research into the brain’s functional organization has shed light on the intricate cellular composition and interconnections within the brains of both neurotypical individuals and those with schizophrenia, where symptoms such as apathy, social withdrawal, and poor emotional control are prevalent.
The findings reveal the surprising complexity of schizophrenia’s mechanisms, indicating the involvement of multiple genes rather than a single gene. This polygenicity presents challenges due to the lack of robust theoretical frameworks and experimental tools.
Sullivan and his colleagues discussed these complexities and proposed future research directions in their article. They also emphasized the significance of environmental factors—such as lifestyle, drug use, poverty, stress, and birth complications—alongside genetic risks.
While these environmental factors are more challenging to study than genetic ones, they are crucial since some are modifiable. Sullivan noted, “The findings to date resoundingly indicate complexity.” He also directs the UNC Center for Psychiatric Genomics and the UNC Suicide Prevention Institute.
He concluded, “Rather than being a deterrent to future research, this knowledge underscores the importance of accepting schizophrenia as a genetic and environmental enigma and scaling our research accordingly to improve the lives of those impacted by schizophrenia.”

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