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A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease

Zheng, X and Demirci, FY and Barmada, MM and Richardson, GA and Lopez, OL and Sweet, RA and Kamboh, MI and Feingold, E (2014) A rare duplication on chromosome 16p11.2 is identified in patients with psychosis in Alzheimer's disease. PLoS ONE, 9 (11).

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Epidemiological and genetic studies suggest that schizophrenia and autism may share genetic links. Besides common single nucleotide polymorphisms, recent data suggest that some rare copy number variants (CNVs) are risk factors for both disorders. Because we have previously found that schizophrenia and psychosis in Alzheimer's disease (AD+P) share some genetic risk, we investigated whether CNVs reported in schizophrenia and autism are also linked to AD+P. We searched for CNVs associated with AD+P in 7 recurrent CNV regions that have been previously identified across autism and schizophrenia, using the Illumina HumanOmni1-Quad BeadChip. A chromosome 16p11.2 duplication CNV (chr16: 29,554,843-30,105,652) was identified in 2 of 440 AD+P subjects, but not in 136 AD subjects without psychosis, or in 593 AD subjects with intermediate psychosis status, or in 855 non-AD individuals. The frequency of this duplication CNV in AD+P (0.46%) was similar to that reported previously in schizophrenia (0.46%). This duplication CNV was further validated using the NanoString nCounter CNV Custom CodeSets. The 16p11.2 duplication has been associated with developmental delay, intellectual disability, behavioral problems, autism, schizophrenia (SCZ), and bipolar disorder. These two AD+P patients had no personal of, nor any identified family history of, SCZ, bipolar disorder and autism. To the best of our knowledge, our case report is the first suggestion that 16p11.2 duplication is also linked to AD+P. Although rare, this CNV may have an important role in the development of psychosis.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Zheng, X
Demirci, FYfyd1@pitt.eduFYD1
Barmada, MMbarmada@pitt.eduBARMADA
Richardson, GA
Lopez, OLollopez@pitt.eduOLLOPEZ
Sweet, RAsweet@pitt.eduSWEET
Kamboh, MIkamboh@pitt.eduKAMBOH
Feingold, Efeingold@pitt.eduFEINGOLD
ContributionContributors NameEmailPitt UsernameORCID
Date: 7 November 2014
Date Type: Publication
Journal or Publication Title: PLoS ONE
Volume: 9
Number: 11
DOI or Unique Handle: 10.1371/journal.pone.0111462
Schools and Programs: Graduate School of Public Health > Biostatistics
Graduate School of Public Health > Epidemiology
Graduate School of Public Health > Human Genetics
School of Medicine > Neurology
School of Medicine > Psychiatry
Refereed: Yes
Other ID: NLM PMC4224411
PubMed Central ID: PMC4224411
PubMed ID: 25379732
Date Deposited: 12 May 2015 18:29
Last Modified: 30 Mar 2021 11:55


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