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International Journal of Alzheimer’s Disease
Volume 2011 (2011), Article ID 729478, 10 pages
http://dx.doi.org/10.4061/2011/729478
Research Article

Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI Study

1Center for Neuroimaging, Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN 46202, USA
2Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA
3Center for Computational Biology and Bioinformatics, Indiana University School of Medicine, Indianapolis, IN 46202, USA
4Department of Psychiatry and Human Behavior, University of California, Irvine, CA 92697, USA
5Neurogenomics Divison, The Translational Genomics Research Institute, 445 N. Fifth Street, Phoenix, AZ 85004, USA
6Departments of Radiology, Medicine and Psychiatry, University of California, San Francisco, CA 94143, USA
7Department of Veterans Affairs Medical Center, San Francisco, CA 94121, USA

Received 5 October 2010; Revised 22 December 2010; Accepted 27 January 2011

Academic Editor: Benedetta Nacmias

Copyright © 2011 Shanker Swaminathan et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.