A team of researchers led by scientists at the Icahn School of Medicine at Mount Sinai, SUNY Downstate Health Sciences University and the Department of Veterans Affairs conducted the largest and most comprehensive genome-wide association study (GWAS) to date of schizophrenia in people of African descent. The study, published Jan. 21 in Nature, identified more than 100 genetic regions associated with schizophrenia that had not been clearly identified in previous research. Importantly, the findings demonstrate that while specific genetic variants may differ between populations, the basic biological mechanisms underlying schizophrenia are universally shared.
Schizophrenia affects people of all regions and backgrounds, yet most genetic studies to date have focused on people of European descent. This imbalance has limited scientific understanding of the disorder and reduced the accuracy of genetic tools for millions of people, particularly those of African descent.
“Our goal was to address an important gap in psychiatric genetics,” said Panos Roussos, MD, PhD, Professor of Psychiatry and Genetics and Genomic Sciences and Director of the Center for Neurogenomics of Disease at the Icahn School of Medicine at Mount Sinai. Director of the Center for Precision Medicine and Translational Therapeutics at the James J. Peters VA Medical Center. and senior author of the study. “By expanding representation in genetic research, not only have we discovered new areas associated with schizophrenia, but we have also gained a clearer picture of the common biological pathways that drive the disease across populations.”
Key findings
Researchers discovered more than 100 new regions in the human genome linked to schizophrenia that had not been clearly identified before. Many of these genetic differences are more common in people of African descent, which explains why they had not been done in previous studies that mostly included people of European descent.
Although some genetic differences vary by ancestry, the study found that schizophrenia affects the same underlying brain systems in all populations. In other words, people around the world may carry different genetic “spell changes,” but those changes tend to disrupt the same genes and brain cells. These cells work together to keep the brain’s signals balanced, and disturbances in this balance appear to be central to schizophrenia.
“These results give us confidence that schizophrenia is biologically similar across populations,” noted Dr. Roussos. “At the same time, they also show how much we gain when genetic research includes people from diverse backgrounds.”
Because this matters
The study highlights the scientific and ethical necessity of including diverse populations in genetic research. Broader representation not only reveals ancestry-related regions of risk, but also strengthens confidence in global biological mechanisms.
By identifying converging genes, pathways and brain cell types, the findings provide a stronger basis for developing biology-based therapies and genetic tools that are more equitable and applicable across populations.
The researchers stressed that these genetic discoveries do not diagnose schizophrenia and do not determine who will or will not develop the disorder. “Genetic findings inform biology and research, but they do not predict who will or will not develop the disease,” the authors emphasized. “Environmental, social and cultural factors also play critical roles in mental health and are not only captured by genetic studies.”
While this study represents a significant advance, the authors emphasize that larger and more diverse data sets, particularly from populations of African descent, are urgently needed. Future work will focus on expanding global representation, refining the causative genes and cell types identified, and integrating genetic discoveries with functional studies in human brain tissue. A long-term goal of this research is to translate shared biological knowledge into new, mechanism-based treatments that can benefit people with schizophrenia worldwide.
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