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The Role of Copy Number Variation in Psychiatric Disorders 

The Role of Copy Number Variation in Psychiatric Disorders
Chapter:
The Role of Copy Number Variation in Psychiatric Disorders
Author(s):

Elliott Rees

and George Kirov

DOI:
10.1093/med/9780190221973.003.0006
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date: 20 May 2019

Copy number variants (CNVs) are deletions, duplications, inversions, or translocations of large DNA segments. They can play a significant role in human disease. Thirteen CNVs have received strong statistical support for involvement in schizophrenia. They are all rare in cases (<1%), much rarer among controls, and have high odds ratios (ORs) for causing disease. The same CNVs also increase risk for autism spectrum disorders, developmental delay, and medical/physical comorbidities. The penetrance of these CNVs for any disorder is relatively high, ranging from 10% for 15q11.2 deletions to nearly 100% for deletions at 22q11.2. Strong selection pressure operates against carriers of these CNVs. Most of these are formed by non-allelic homologous recombination (NAHR), which leads to high mutation rates, thus maintaining the rates of these CNVs in the general population, despite the strong selection forces.

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