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Making headway in schizophrenia genetics

23 July 2014 Liz Eltham

A momentous step has been made in the research of the biology of schizophrenia. It has been known for some time that genetic factors are involved in the development of schizophrenia, but previous studies have not been large enough to pinpoint the specific variations responsible.1 A study published in Nature this week has discovered 108 genes which may increase a person’s risk of developing the disease, 83 of which were previously unknown.2

The study, led by Michael O’Donovan, Cardiff University, UK, pooled genetic samples from 36 989 people with schizophrenia and 113 075 controls, mainly from northern Europe. This huge sample size allowed an algorithm to be devised that can calculate risk scores for the contribution of each variant gene to schizophrenia. This exciting discovery could eventually be used to predict whether an individual might develop the disorder. Knowing more about the genetic risk of schizophrenia provides new insights into the causes of the disease. Many of the genes identified are expressed in the brain, but others are expressed in the immune system; this supports the theory that an immune trigger is involved.

The research was funded by multiple governments and charities; with more funding, follow-up studies can be conducted, the results of which could make way for a new class of therapies for the treatment of schizophrenia. Will some people with schizophrenia be happier to comply with treatment if they understand that their illness has a physical component?

There is still much to learn about the illness, and we must not forget the importance of an integrated, multidisciplinary approach to managing people with schizophrenia, as recommended in the policy report Schizophrenia: Time to Commit to Policy Change. “Today’s research provides an interesting and promising step in the search for more suitable treatment options than currently available,” remarked Beth Murphy from the charity Mind, “but it is vital that health professionals recognize the need for a holistic approach.”

1. Riley B, Kendler KS. Molecular genetic studies of schizophrenia. Eur J Hum Gen 2006;14:669–80. 

2. Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature 2014; doi:10.1038/nature13595.

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