New Study Discovers More Than 100 Genetic Links to Schizophrenia

Ayman Fanous, MD, chair of the Department of Psychiatry at the University of Arizona College of Medicine – Phoenix and Banner – University Medical Center Phoenix — along with researchers from more than a dozen schools such as the Icahn School of Medicine at Mount Sinai and SUNY Downstate Health Sciences University — recently published a study in Nature exploring biological insights into schizophrenia from diverse populations.

According to Dr. Fanous, most genetic studies of schizophrenia have been done for those with European ancestry. This recent publication is the largest study by far in Black or African ancestry populations to date.

“It allowed us to expand on the known schizophrenia susceptibility loci — regions of the genome thought to harbor genetic variants that increase risk — by more than 100,” Dr. Fanous said. “It showed that the biological pathways that are involved in developing the disorder are largely the same regardless of genetic ancestry.”

A trained geneticist who’s has been conducting psychiatric genetics research for about 20 years, Dr. Fanous is a familiar figure in the field. Throughout his career, he has had consistent Veterans Affair and National Institutes of Health funding for his research projects.

The team of researchers utilized the Veterans Affairs databases, which brought together geneticists, statisticians, clinicians and molecular biologists. Research groups from institutions in several other countries were also asked to share data and results.

Over a million veterans consented to have their genetic information and medical records studied. It was an enormous undertaking — examining more than 6,000 participants with schizophrenia and more than 20,000 control individuals. All were of African ancestry from this biobank.

“The team compared the prevalence of genetic variants in cases versus controls by using genome-wide association study methodology,” Dr. Fanous explained. “The team also compiled existing datasets from multiple sources, requiring extensive collaboration.”

The researchers found more than 100 new human genome regions linked to schizophrenia. These findings will provide a solid foundation for future discoveries with diverse data sets, though there is much work still to be done.

“This suggests that the experience of these dread diseases and the suffering they impart are essentially the same in all human populations,” Dr. Fanous said. “This should increase our empathy and understanding of people with serious mental illness worldwide.”

By diversifying the research data, Dr. Fanous and his fellow researchers were able to understand schizophrenia in a more nuanced way. This could potentially lead more effective treatment options across populations. 

“In the case of genomics research, diversity in the populations studied gives us an opportunity to understand disease processes in a much more detailed way,” Dr. Fanous said. “The diversity allows us to narrow the location of disease genes much more, which will ultimately make it easier to find clues to developing new treatments.”

With the groundwork laid, Dr. Fanous said he hopes scientists will identify specific mutations and see how the mutations alter the gene expression connected to brain development and function.

“Ultimately, what is needed is developing ways to compensate for the gene expressions changes brought about by disease gene mutations,” Dr. Fanous said.