These Risk Genes Are Linked to Schizophrenia

According to research published last week in Nature Genetics, there are at least two previously undiscovered “schizophrenia risk genes,” plus an additional gene with potential ties to both schizophrenia and autism. The study’s authors, a team from the Icahn School of Medicine at Mount Sinai, New York, conducted a massive meta-analysis — combing through 35,828 cases and 107,877 control participants — in the hopes of some clarity on why certain people/ethnic groups are more susceptible to the mental condition. They identified SRRM2 and AKAP11 , two new SCZ risk genes, by cross-referencing the gene sequences of people who’ve had the condition with those of a control population. And, crucially, this research broke from the flawed, decades-old tradition of only assessing European ancestry genomes, which has limited the scope of previous studies.

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In a statement, lead author Dr. Dongjing Liu contextualized the importance of looking for “rare damaging variants” (also known as protein-truncating variants — they shorten the coding sequence of genes, sabotaging their function) across various ethnicities. “Also significant: studying people of various ancestral backgrounds, we found that rare damaging variants in evolutionarily constrained genes confer a similar magnitude of schizophrenia risk among those different populations and that genetic factors previously established in predominantly white people have now been extended to non-whites for this debilitating disease.”

Translation: when genome-wide association is inclusive, medical professionals are able to make more confident conclusions on disease, which makes it easier for them to treat it. After all, antipsychotic medication isn’t effective for 100% of patients. In casting the net wide and finding new risk genes, drug developers might be able to specifically target SRRM2 and AKAP11.

As for the third discovery, PCLO, geneticists had already linked it to schizophrenia. But they weren’t aware of its association with autism. The discovery suggests “genetic overlap between psychiatric disorders,” as IFLScience reported.

Another author, Dr. Alexander W. Charney, explained: ““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.”