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Chunk #6 — The genetic architecture of schizophrenia — CNVs

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Recent genetic findings in schizophrenia and their therapeutic relevance.
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for several CNVs exceed 8), but each CNV is extremely rare, except for hemideletion of 22q11 (velocardiofacial syndrome; Schneider et al., 2014). The contribution that CNVs make overall to the aetiology of schizophrenia is unknown; a recent population-based study estimated that 5% of cases had a CNV of probable causal significance (Costain et al., 2013), though other estimates are lower (Rees et al., 2014). Many schizophrenia-associated CNVs occur de novo (Xu et al., 2011); the others are inherited. Like SNPs, the schizophrenia-associated CNVs do not show diagnostic specificity, also conferring risk of autism and learning disability (Malhotra and Sebat, 2012), though perhaps not bipolar disorder (Grozeva et al., 2010).