Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample.
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ABSTRACT:
SUBMITTER: Guffanti G
PROVIDER: S-EPMC4012421 | biostudies-literature | 2013 Aug
REPOSITORIES: biostudies-literature
Publications
Increased CNV-region deletions in mild cognitive impairment (MCI) and Alzheimer's disease (AD) subjects in the ADNI sample.
Guffanti Guia G Torri Federica F Rasmussen Jerod J Clark Andrew P AP Lakatos Anita A Turner Jessica A JA Fallon James H JH Saykin Andrew J AJ Weiner Michael M Vawter Marquis P MP Knowles James A JA Potkin Steven G SG Macciardi Fabio F
Genomics 20130411 2
We investigated the genome-wide distribution of CNVs in the Alzheimer's disease (AD) Neuroimaging Initiative (ADNI) sample (146 with AD, 313 with Mild Cognitive Impairment (MCI), and 181 controls). Comparison of single CNVs between cases (MCI and AD) and controls shows overrepresentation of large heterozygous deletions in cases (p-value<0.0001). The analysis of CNV-Regions identifies 44 copy number variable loci of heterozygous deletions, with more CNV-Regions among affected than controls (p=0.0 ...[more]
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