Advances in Understanding the Genetics of Schizophrenia

Advances in understanding the genetics of schizophrenia have been reported recently. The first advance is a study that announced finding significant genetic loci that are associated with schizophrenia. The other advance is a very large donation to the Broad Institute, a biomedical research center, which was made to fund the study of mental illnesses.

In the study that looked at the genetics of schizophrenia, 108 genetic loci were identified that were associated with schizophrenia. Researchers from the Schizophrenia Working Group of the Psychiatric Genomics Consortium performed a genome-wide association study to identify locations in the human genome that were statistically associated with schizophrenia. The Psychiatric Genomics Consortium includes scientists from more than 80 institutions. Of the 108 genetic loci, 83 were novel and have not been previously reported as being related to schizophrenia. The study was reported in the journal Nature.

Some of the associated genetic loci are known to be expressed in the brain, which provides biological plausibility in being associated with this mental disorder. The DRD2 gene and other genes known to be involved with glutamatergic neurotransmission, which has been implicated in schizophrenia and is thought to have potential therapeutic value, were implicated in the study. Genes that are known to play a role in immunity were also implicated in the study. Previous studies have shown a link between the immune system and schizophrenia, although this link is thought to still be speculative.

Genome-wide association studies have been performed quite a lot in the last decade to search through the massive human genome to identify important genetic loci related to various diseases. These studies employ sophisticated statistical analyses and involve DNA samples from large numbers of people. The DNA samples from the subjects are analyzed to find single-nucleotide polymorphism (SNP) information for each person and then the genome-wide association study algorithm is applied to look for statistically significant associations. More than 150,000 were included in the reported study and 36,989 were diagnosed with schizophrenia. A sample size of 150,000 is a very large study group.

The study on schizophrenia showed that many of the genetic variations were common in the general population but people with schizophrenia have more than people who do not have schizophrenia. Each genetic locus that contributes an associated variant contributes a small amount to the overall risk of developing schizophrenia.

The very large donation given toward the study of mental illnesses was donated by Ted Stanley. He donated the money to the family foundation called the Stanley Center for Psychiatric Research, and the foundation then gave the money to the Broad Institute to carry out the research. The total amount of money that was donated was $650 million, which is thought to be the largest amount of money ever given for this type of research. The donation of these funds will allow the Broad Institute to carry out long-term projects and research projects that are thought to be more risky in terms of producing a given outcome. The Stanley Center for Psychiatric Research has stated they intend to fund genetic studies and also studies on the biological pathways involved in schizophrenia, autism and bipolar disorder. They will fund studies that use animal and cell models and also studies that might lead to the development of new drugs to treat these disorders. These advances in genetic studies and funding for future studies will certainly aid in developing an understanding of the genetics of schizophrenia, which could be important to many families.

By Margaret Lutze

Nature (1)
Nature (2)
New York Times

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