The New Genetics of Schizophrenia


By Chris Iliades, MD, Everyday Health; Reviewed by Niya Jones, MD, MPH

Photo by Lauri Rotko/Getty Images

The largest study ever conducted of people with schizophrenia has found 83 new gene locations, some in surprising places — findings that will allow researchers to pursue new theories about what causes the disease and how to treat it.

The work of hundreds of schizophrenia investigators from dozens of research centers around the world — the Psychiatric Genomics Consortium — came together in the study, published in the journal Nature. The researchers looked at the genetic codes of 36,989 people with schizophrenia and 113,075 people who did not have the brain disorder.

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“This is a big moment in schizophrenia research,” says Anil Malhotra, MD, director of psychiatric research at Zucker Hillside Hospital in Glen Oaks, New York, and a study contributor. “We have gone from just a handful of known genetic loci for schizophrenia to 108. This is a wealth of research and should lead to an onslaught of investigations into these gene locations.”

Evgeny I. Rogaev, PhD, a psychiatry professor at the University of Massachusetts Medical School in Worcester, says it was the largest study of its kind in schizophrenia, and “therefore it must provide the strongest statistical data ever reported.”

Unraveling the Cause of Schizophrenia

Genetics have been long been recognized as a cause of schizophrenia, a disease that attacks about 1 percent of the population. If you have a parent with schizophrenia, your risk jumps to 10 percent. Even if you have an identical twin with the disease though, your risk is still only 50 percent. The new study, though, may start to explain why some people get the disease and others don’t.

“There are new genes which have not been linked to schizophrenia before,” Dr. Rogaev says. In general, he notes, however, the study strongly confirms previous theories that schizophrenia is caused by changes in the way the brain sends messages, a process called neurotransmission.

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The study also confirms that people with schizophrenia lose neuroplasticity, which is the brain’s capacity to learn and remember, he adds. “Very likely, there are many different pathways involved,” he says.

Although the study confirmed a lot of the current theories about what goes wrong in the brain of someone with schizophrenia, it also found some surprising links to genes located in areas associated with the immune system, which helps the body fight off infections. Could schizophrenia be triggered by an infection?

It’s possible, experts say.

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Rogaev notes that there have been previous theories linking schizophrenia to the immune system. Finding schizophrenia genes in areas that regulate the immune system gives these theories new life. “So we may have both immune system pathways and neurotransmitter pathways associated with schizophrenia,” he says. “I think a new and exciting area of research will be to look for links between the immune system and the neurotransmitter system.”

Researchers will likely explore many new possibilities.

“I suspect we will find different subsets of schizophrenia which have different causes,” says Dr. Malhotra. “One cause may be changes in regulation of the immune system triggered by certain infections.”

Looking Ahead at Treatment

Treatment for schizophrenia has not advanced much since the 1950s. The new study supports addressing the areas targeted by today’s drugs — areas where the brain chemical dopamine is regulated. “All the drugs that work for schizophrenia are targeted at dopamine receptors,” Malhotra says. “New areas found in this study suggest possible new targets.”

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In a sense, the new study cracks the ice that has encased schizophrenia for so many years and may allow researchers to finally find the keys to understanding and treating what can be a devastating mental health disorder.

“I expect we will see researchers looking closely at all these new genetic areas,” Malhotra says. “We will find out what these genes do and what happens when we knock them out.”


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This article originally appeared on The New Genetics of Schizophrenia