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Chunk #41 — Bipolar Disorder — Family-based studies

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CNVs: harbingers of a rare variant revolution in psychiatric genetics.
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Given the strong and reproducible associations that have been observed for de novo CNVs in ASD and Schizophrenia, it would be logical to investigate this class of mutation in mood disorders as well. In the first of such studies (Malhotra et al., 2011), we examined the rate of de novo CNVs in bipolar disorder. Frequencies of de novo CNVs were significantly higher (4.3%) in bipolar disorder as compared with healthy individuals(0.09%). The rate of de novo CNVs among cases with an age at onset younger than 18 was higher still (5.6%), and comparable to the rate we observed in schizophrenia (4.5%) using the same methods.