Identifying Two New Schizophrenia Risk Genes and a Shared Risk for Autism: Study

A new study conducted by researchers from the Icahn School of Medicine at Mount Sinai has identified two previously unknown genes associated with schizophrenia and implicated a third gene with a shared risk for both schizophrenia and autism. The study, published in the online issue of the journal Nature Genetics, found the two risk genes—SRRM2 and AKAP11—by comparing the gene sequences of people with schizophrenia to those of healthy controls across diverse populations, particularly those of African ancestry. A meta-analysis was conducted using existing datasets, which amounted to a total of 35,828 cases and 107,877 controls.[0]

The researchers also identified a third gene, PCLO, as having a shared risk for schizophrenia and autism. Scientists found this to be particularly intriguing.[0] The researchers warned that not all patients possess a rare, harmful mutation in the associated schizophrenia genes. No single factor is responsible for this multi-faceted disease.[1] Alexander W. Charney, a co-senior corresponding author of the study, explained, “It’s been known that there are genetic components shared among illnesses. Clinically, genes could look different in the same family. The same variant in the same family may cause autism in one family member and schizophrenia in another. The idea of the same gene having different manifestations is very interesting to us, as it could be useful when it comes to treating people in the clinic.”[0]

The study is the first known work of its kind to investigate schizophrenia risk across diverse populations, particularly those of African ancestry.[0] The paper is titled, “Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations” and further demonstrated that the schizophrenia risk conferred by these rare damaging variants is conserved across ethnicities.[0] This research could potentially lead to new treatments.[1]

The researchers intend to investigate whether and how the genes in question could have a practical purpose and could be connected to a particular action or symptom of schizophrenia. They will also work to identify drugs that might target these genes.[0] Laura M. Huckins, PhD, co-senior corresponding author on the study and an Associate Professor of Psychiatry at the Yale School of Medicine, said, “We wanted to continue the insightful work of my and Dr.[0]

0. “Scientists Identify Rare Damaging Gene Variants That May Increase Schizophrenia Risk” Medical Daily, 14 Mar. 2023,

1. “Novel Genes That May Increase Risk for Schizophrenia Identified” Neuroscience News, 13 Mar. 2023,

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