Genomic Copy Number Analysis in Alzheimer's Disease and Mild Cognitive Impairment: An ADNI 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 geneCHRFAM7A, as well asCSMD1,SLC35F2,HNRNPCL1,NRXN1,andERBB4regions, only in cases. Replication in larger samples is important, after which regions detected here may be promising targets for resequencing.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Jan 01, 2011
- Source ID
- 10.4061/2011/729478
Entities
People
- Andrew J. Saykin
- David W. Craig
- Matthew J. Huentelman
- Michael W. Weiner
- Nathan Pankratz
- Shanker Swaminathan
- Shannon L. Risacher
- Shen Li
- Steven G. Potkin
- Sungeun Kim
- Tatiana Foroud
- The Alzheimer's Disease Neuroimaging Initiative (adni)
Organizations
- Alzheimer's Disease Neuroimaging Initiative
- Indiana University School of Medicine
- Translational Genomics Research Institute
- United States Department of Veterans Affairs
- University of California