Journal article
A genome-wide CNV analysis of schizophrenia reveals a potential role for a multiple-hit model
American journal of medical genetics. Part B, Neuropsychiatric genetics, Vol.165B(8), pp.619-626
12/2014
DOI: 10.1002/ajmg.b.32266
PMID: 25228354
Abstract
Schizophrenia is a chronic and severe psychiatric disorder that is highly heritable. While both common and rare genetic variants contribute to disease risk, many questions still remain about disease etiology. We performed a genome-wide analysis of copy number variants (CNVs) in 166 schizophrenia subjects and 52 psychiatrically healthy controls. First, overall CNV characteristics were compared between cases and controls. The only statistically significant finding was that deletions comprised a greater proportion of CNVs in cases. High interest CNVs were then identified as conservative using the following filtering criteria: (i) known deleterious CNVs; (ii) CNVs > 1 Mb that were novel (not found in a database of control individuals); and (iii) CNVs < 1 Mb that were novel and that overlapped the coding region of a gene of interest. Cases did not harbor a higher proportion of conservative CNVs in comparison to controls. However, similar to previous reports, cases had a slightly higher proportion of individuals with clinically significant CNVs (known deleterious or conservative CNVs > 1 Mb) or with multiple conservative CNVs. Two case individuals with the highest burden of conservative CNVs also share a recurrent 15q11.2 BP1-2 deletion, indicating a role for a potential multiple-hit CNV model for schizophrenia. In total, we report three 15q11.2 BP1-2 deletion individuals with schizophrenia, adding to a growing body of evidence that this CNV is involved in disease etiology.
Details
- Title: Subtitle
- A genome-wide CNV analysis of schizophrenia reveals a potential role for a multiple-hit model
- Creators
- Danielle S Rudd - Interdisciplinary Graduate Program in Genetics, University of Iowa, Iowa City, Iowa; Department of Psychiatry, University of Iowa, Iowa City, IowaMichael AxelsenEric A EppingNancy C AndreasenThomas H Wassink
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part B, Neuropsychiatric genetics, Vol.165B(8), pp.619-626
- Publisher
- United States
- DOI
- 10.1002/ajmg.b.32266
- PMID
- 25228354
- ISSN
- 1552-4841
- eISSN
- 1552-485X
- Grant note
- MH68380 / NIMH NIH HHS MH31593 / NIMH NIH HHS MH40856 / NIMH NIH HHS MH43271 / NIMH NIH HHS MH080128 / NIMH NIH HHS
- Language
- English
- Date published
- 12/2014
- Academic Unit
- Psychiatry; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984003464802771
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