期刊
PLOS ONE
卷 7, 期 12, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0050640
关键词
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资金
- Kronos Science
- National Institute of Neurological Disorders and Stroke (NINDS) [R01NS059873]
- National Institute on Aging (NIA) [R01AG034504, R01AG031581, P30AG19610, Z01AG000950-06, P30AG10161, R01AG15819]
- Banner Alzheimer's Foundation
- Johnnie B. Byrd Sr. Alzheimer's Disease Institute
- Medical Research Council
- Intramural Research Program of the National Institutes of Health (NIH)
- State of Arizona
- John Hopkins Alzheimer's Disease Research Center [NIA AG05146]
- University of California, Los Angeles [NIA P50AG16570]
- Kathleen Price Bryan Brain Bank, Duke University Medical Center [NIA AG05128, NINDS NS39764]
- Glaxo Smith Kline [MH60451]
- Massachusetts Alzheimer's Disease Research Center [P50AG005134]
- University of Michigan [NIH P50-AG08671]
- University of Kentucky [NIH AG05144]
- Washington University, St Louis Alzheimer's Disease Research Center [NIH P50AG05681]
- University of Washington, Seattle [NIH P50AG05136]
- Boston University Alzheimer's Disease Research Center [NIH P30-AG13846]
- Sun Health Research Institute Brain Donation Program of Sun City, Arizona [NIA P30AG19610]
- Arizona Alzheimer's Disease Core Center, Arizona Department of Health Services [211002]
- Arizona Alzheimer's Research Center
- Arizona Biomedical Research Commission [4001, 0011, 05-901, 1001]
- Rush University Medical Center, Rush Alzheimer's Disease Center [NIH AG10161]
- Medical Research Council (MRC)
- local National Health Service (NHS) trusts
- Newcastle University
- Higher Education Funding Council for England (HEFCE)
- Alzheimer's Research Trust (ART)
- BRACE
- North Bristol NHS Trust Research and Innovation Department
- National Institute for Health Research (NIHR) Dementias and Neurodegenerative Diseases Research Network (DeNDRoN)
- Stichting MS Research
- Brain Net Europe
- Hersenstichting Nederland Breinbrekend Werk
- International Parkinson Fonds
- Internationale Stiching Alzheimer Onderzoek
- ADNI [NIH U01AG024904, RC2AG036535]
- NIA [U24AG026395, U24AG021886]
- National Institute of Biomedical Imaging and Bioengineering
- Canadian Institutes of Health Research
- Northern California Institute for Research and Education
- NIH [P30AG010129, K01AG030514, HHSN268200782096C]
- Dana Foundation [U01AG032984]
- Alzheimer's Disease Genetics Consortium grant [NIA R01AG1977, P30AG010133]
- Indiana Economic Development Corporation (IEDC) [87884]
- Foundation for the NIH for data analysis
- National Institute on Aging (NIA)
- National Alzheimer's Coordinating Center (NACC)
Copy number variations (CNVs) are genomic regions that have added (duplications) or deleted (deletions) genetic material. They may overlap genes affecting their function and have been shown to be associated with disease. We previously investigated the role of CNVs in late-onset Alzheimer's disease (AD) and mild cognitive impairment using Alzheimer's Disease Neuroimaging Initiative (ADNI) and National Institute of Aging-Late Onset AD/National Cell Repository for AD (NIA-LOAD/NCRAD) Family Study participants, and identified a number of genes overlapped by CNV calls. To confirm the findings and identify other potential candidate regions, we analyzed array data from a unique cohort of 1617 Caucasian participants (1022 AD cases and 595 controls) who were clinically characterized and whose diagnosis was neuropathologically verified. All DNA samples were extracted from brain tissue. CNV calls were generated and subjected to quality control (QC). 728 cases and 438 controls who passed all QC measures were included in case/control association analyses including candidate gene and genome-wide approaches. Rates of deletions and duplications did not significantly differ between cases and controls. Case-control association identified a number of previously reported regions (CHRFAM7A, RELN and DOPEY2) as well as a new gene (HLA-DRA). Meta-analysis of CHRFAM7A indicated a significant association of the gene with AD and/ or MCI risk (P = 0.006, odds ratio = 3.986 (95% confidence interval 1.490-10.667)). A novel APP gene duplication was observed in one case sample. Further investigation of the identified genes in independent and larger samples is warranted. Citation: Swaminathan S, Huentelman MJ, Corneveaux JJ, Myers AJ, Faber KM, et al. (2012) Analysis of Copy Number Variation in Alzheimer's Disease in a Cohort of Clinically Characterized and Neuropathologically Verified Individuals. PLoS ONE 7(12): e50640. doi:10.1371/journal.pone.0050640
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