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Somatic Copy Number Variants

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The Genetic Link: Schizophrenia, Cannabis, and Rare Mutations
neuroscience2 years ago

The Genetic Link: Schizophrenia, Cannabis, and Rare Mutations

A study published in Cell Genomics has found a correlation between schizophrenia and somatic copy-number variants (sCNVs), non-inherited genetic mutations that occur early in development. The study analyzed genotype-marker data from over 20,000 blood samples and identified two genes, NRXN1 and ABCB11, that are associated with schizophrenia when disrupted during in-utero development. NRXN1, which helps transmit signals throughout the brain, has been linked to schizophrenia before, but this is the first study to implicate non-inherited mutations. ABCB11, a gene associated with treatment-resistant schizophrenia, also showed correlation, providing new insights into the genetic complexity of the disorder. Further research is needed to identify other acquired mutations associated with schizophrenia and to investigate brain-specific mutations.