Researchers identify eight new genes linked to schizophrenia

Researchers in the United Kingdom have identified eight genes newly associated with schizophrenia, a discovery that could improve understanding of the severe mental health disorder and support the development of future treatments.

Schizophrenia is a complex psychiatric condition that affects how a person thinks, feels and behaves. It can cause symptoms such as hallucinations, delusions, disorganised thinking and changes in behaviour. While genetics has long been known to play a role, identifying the specific genes involved has remained a major scientific challenge.

In a new study published in the journal Nature Communications, scientists at the Centre for Neuropsychiatric Genetics and Genomics (CNGG) at Cardiff University analysed rare, high-impact mutations in protein-coding genes that occur more frequently in people with schizophrenia.

The researchers identified two genes—STAG1 and ZNF136—with strong genetic evidence linking them to schizophrenia. They also found moderate evidence for six additional genes: SLC6A1, KLC1, PCLO, ZMYND11, BSCL2 and CGREF1.

The study found that SLC6A1 and KLC1 are the first schizophrenia risk genes to be identified solely through missense variants, a type of genetic mutation that changes the amino acid sequence of proteins.

“These findings are informative because they suggest that schizophrenia might be linked to changes in how DNA is organised within cells, and also disruptions in how brain cells communicate using a chemical called GABA,” said Sophie Chick, a doctoral student at Cardiff University.

“These results further our understanding of the complex neurobiology of schizophrenia and put us closer to the goal of advancing drug discovery and improving treatment,” she added.

The international research team analysed genetic data from 28,898 people with schizophrenia, 103,041 individuals without the condition, and 3,444 families affected by the disorder.

The findings also strengthen evidence that schizophrenia shares genetic roots with other neurodevelopmental conditions. Four of the newly identified genes—STAG1, SLC6A1, ZMYND11 and CGREF1—have previously been associated with autism, epilepsy and developmental delay.

“Rare genetic variants have long been known to have a role in schizophrenia, but identifying specific genes linked to these mutations has been a major challenge,” said lead author Dr. Elliott Rees of Cardiff University School of Medicine.