Genome-wide scan of copy number variation in late-onset Alzheimer's disease.
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Alzheimer's disease is a complex and progressive neurodegenerative disease leading to loss of memory, cognitive impairment, and ultimately death. To date, six large-scale genome-wide association studies have been conducted to identify SNPs that influence disease predisposition. These studies have confirmed the well-known APOE epsilon4 risk allele, identified a novel variant that influences disease risk within the APOE epsilon4 population, found a SNP that modifies the age of disease onset, as well as reported the first sex-linked susceptibility variant. Here we report a genome-wide scan of Alzheimer's disease in a set of 331 cases and 368 controls, extending analyses for the first time to include assessments of copy number variation. In this analysis, no new SNPs show genome-wide significance. We also screened for effects of copy number variation, and while nothing was significant, a duplication in CHRNA7 appears interesting enough to warrant further investigation.
Aged, 80 and over
DNA Copy Number Variations
Genetic Predisposition to Disease
Genome-Wide Association Study
Polymorphism, Single Nucleotide
Published Version (Please cite this version)10.3233/JAD-2010-1212
Publication InfoBurke, JR; Chiba-Falek, O; Goldstein, David Benjamin; Hayden, Kathleen M; Heinzen, EL; Hulette, Christine Marie; ... Welsh-Bohmer, Kathleen Anne (2010). Genome-wide scan of copy number variation in late-onset Alzheimer's disease. J Alzheimers Dis, 19(1). pp. 69-77. 10.3233/JAD-2010-1212. Retrieved from http://hdl.handle.net/10161/4614.
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Professor in Neurology
Functional genomics Non-coding regulatory variants in the human genome Genetics of complex neurological diseases
Adjunct Professor in the Department of Molecular Genetics and Microbiology
Adjunct Associate Professor in the Department of Psychiatry and Behavioral Sciences
My research is focused on several areas with the central theme of early detection of cognitive changes and risk factors associated with the development of Alzheimer‘s disease (AD) and other dementias. Current areas of investigation are a) the epidemiology of cognitive decline and mild cognitive impairment due to AD, b) the study of cognitive endophenotypes, c) genetic risk factors for late onset AD, and d) the development of statistical methods to model cognitive profiles as they man
Assistant Professor of Pathology
Dr. Hulette is interested in Autopsy Neuropathology and Education Technology innovation.
Jefferson-Pilot Corporation Professor of Neurobiology, in the School of Medicine
Allen D. Roses has established an international reputation for his work in pharmacogenetics, exploratory drug discovery, and clinical neuroscience. Dr. Roses founded Cabernet Pharmaceuticals in 2008 to provide pharmacogenetics (PGx) and project-management services to pharmaceutical and biotechnology companies, clinical-research and managed-healthcare organizations, and academic institutions. He has formed a team of consultants with deep experience in the practical application of
This author no longer has a Scholars@Duke profile, so the information shown here reflects their Duke status at the time this item was deposited.
Professor of Psychiatry and Behavioral Sciences
Dr. Kathleen Welsh-Bohmer is a Professor of Psychiatry with a secondary appointment in the Department of Neurology. She is also the Chief of the Medical Psychology CPU, the professional home for the over 200 academic psychologists within Duke Medical Center. Clinically trained as a neuropsychologist, Dr. Welsh-Bohmer's research activities have been focused around developing effective prevention and treatment strategies to delay the onset of
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