Schizophrenia Genetic Causes: New Study Makes Progress In Linking Genetic Risk Factors To Gene Function

While scientists have found considerable success in identifying genetic variants linked to schizophrenia, there still exists an uncertainty about which genes cause the condition and the regulation of their function. A new study in the field, however, has made advances in understanding how gene function in the disorder may be altered by certain risk factors.

Schizophrenia is a chronic mental disorder characterized by altered brain functioning and periods of psychosis. The disabling condition affects how a person thinks, feels, and behaves, making them seem detached from reality.

University of Exeter Medical School’s Jonathan Mill who led the research, said in a press release: “This study highlights the power of integrating different types of genomic data to better understand how disease-associated DNA sequence variation actually influences the way in which genes function.

“Although our study focused on schizophrenia, we're now applying this approach to other types of complex disease,” Mill explained.

The study, reportedly the largest of its kind, used blood samples from 1,714 individuals to help clarify what genes are affected by the genetic variants associated with the disorder by combining information about the genetic sequences with measures of gene regulation in patients suffering from schizophrenia, matching controls.

Along with the underlying genetic sequence, DNA methylation — a mark which regulates both gene expression and function — was also studied. After profiling genetic and regulatory variations in the samples, the study found that gene regulation was potentially affected by a number of genetic variants that have been associated with schizophrenia in the past.

The researchers also identified epigenetic changes — external modifications to DNA that turn genes “on” or “off” — in 26 of 105 regions of the genome, showing that specific genes were to be a priority for further study and possible targets for novel treatments.

Lead author of the study, Eilis Hannon of the University of Exeter Medical School, said: “It is clear that genetic studies need to look beyond simply sequencing DNA, and in this study we simultaneously profiled DNA methylation.”

“By aligning the results from these two molecular approaches, we have generated a list of genes directly affected by schizophrenia genetic risk factors,” Hannon added.

The study was funded by the Medical Research Council and published Monday in the journal Genome Biology.

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