Genomic Copy Number Analysis in Alzheimer′s Disease and Mild Cognitive Impairment: An ADNI Study
Year: 2011
Type: article
Study design: Observational Study
Abstract: Copy number variants (CNVs) are DNA sequence alterations, resulting in gains (duplications) and losses (deletions) of genomic segments. They often overlap genes and may play important roles in disease. Only one published study has examined CNVs in late-onset Alzheimer's disease (AD), and none have examined mild cognitive impairment (MCI). CNV calls were generated in 288 AD, 183 MCI, and 184 healthy control (HC) non-Hispanic Caucasian Alzheimer's Disease Neuroimaging Initiative participants. After quality control, 222 AD, 136 MCI, and 143 HC participants were entered into case/control association analyses, including candidate gene and whole genome approaches. Although no excess CNV burden was observed in cases (AD and/or MCI) relative to controls (HC), gene-based analyses revealed CNVs overlapping the candidate gene CHRFAM7A, as well as CSMD1, SLC35F2, HNRNPCL1, NRXN1, and ERBB4 regions, only in cases. Replication in larger samples is important, after which regions detected here may be promising targets for resequencing.
DOI: 10.4061/2011/729478
Institutions: Indiana University Indianapolis, Indiana University School of Medicine, Indiana University – Purdue University Indianapolis, University of California, Irvine, Translational Genomics Research Institute, San Francisco VA Medical Center, United States Department of Veterans Affairs, University of California, San Francisco
Language: English
Subfield: Psychiatry and Mental health
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $820
Funders: U.S. Department of Defense, Foundation for the National Institutes of Health, Alzheimer's Association, Dana Foundation, Bristol-Myers Squibb, Eli Lilly and Company, Pfizer, AstraZeneca, GlaxoSmithKline, Novartis, Indiana Clinical and Translational Sciences Institute, F. Hoffmann-La Roche, Medpace, Synarc, Alzheimer's Disease Neuroimaging Initiative, Dartmouth College, Northern California Institute for Research and Education, Elan, Eisai, Mitsubishi Tanabe Pharma Corporation, National Institutes of Health, Genentech, University of California, Los Angeles, University of California, San Diego, Medical School, University of Michigan, School of Medicine, Indiana University, Avid Radiopharmaceuticals, National Institute on Aging, National Cancer Institute, National Institute of Neurological Disorders and Stroke, National Institute of Biomedical Imaging and Bioengineering, National Center for Research Resources, DoD Alzheimer's Disease Neuroimaging Initiative
Awards: G104586243, G1103752518, Function BIRN, G1308337445, UC Davis Alzheimer's Disease Core Center, G2022000225, G2152643862, G2189010064, G2283900753, G2314325775, G2409989180, G2649392419, G2662806094, G2835601961, G2844381683, G2877684854, G29951154, G3131374986, G3146424788, G3182212420, G3218891203, G346328595, G3553156159, G3582805754, Genetic Variation in KIBRA and its role in Human Episodic Memory, G3638842286, G3705772492, G3710456697, G3751003370, G3870774570, G3966393351, "MR Morphometrics and Cognitive Decline Rate in Large-Scale Aging Studies", G4050963413, G4126952119, G43180419, G4401988282, G4660785924, G4684857399, G4740819463, G5207404921, G5209990037, Alzheimer's Disease Genetics Consortium, G5366509656, G5389965057, G5459524459, Alzheimer's Disease Neuroimaging Initiative, G572954382, G5780694236, G598830915, G6069485058, G6259281481, G6412110892, G6648385527, Neural Mechanisms of Chemotherapy-Induced Cognitive Disorder, G6899163935, G6948409098, G6957926738, G7315666996, G7414321945, Memory Circuitry in MCI and Early Alzheimerâs Disease Prodrome: Molecular Drivers, G7799614282, G781725486, Alzheimer's Disease Cooperative Study, G793122433, G798517211, G859153142, G8636843673, G869356358, G8895907669, G9000039018, G9000074849, G9000087106, G9000108235, G9000122335, G9000315265, G9000328665, National Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD), G920654007, G991187644, G992581308
OpenAlex ID: W2002612339