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Increased Cnv-Region Deletions In Mild Cognitive Impairment (Mci) And Alzheimer's Disease (Ad) Subjects In The Adni Sample, Guia Guffanti, Federica Torri, Jerod Rasmussen, Andrew P. Clark, Anita Lakatos, Jessica Turner, James H. Fallon, Andew Saykin, Michael Weiner, Marquis P. Vawter, James A. Knowles, Steven G. Potkin, Fabio Macciardi
Increased Cnv-Region Deletions In Mild Cognitive Impairment (Mci) And Alzheimer's Disease (Ad) Subjects In The Adni Sample, Guia Guffanti, Federica Torri, Jerod Rasmussen, Andrew P. Clark, Anita Lakatos, Jessica Turner, James H. Fallon, Andew Saykin, Michael Weiner, Marquis P. Vawter, James A. Knowles, Steven G. Potkin, Fabio Macciardi
Psychology Faculty Publications
We investigated the genome-wide distribution of CNVs in the Alzheimer's disease (AD) Neuroimaging Initia- tive (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 hetero- zygous deletions in cases (p-value b 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 = 0.005). Seven of the 44 CNV-Regions are nominally significant for association with cognitive impairment. We validated and con- firmed our main findings with genome re-sequencing of …