TY - JOUR
T1 - Genomic copy number analysis in Alzheimer's disease and mild cognitive impairment
T2 - An ADNI study
AU - Saykin, Andrew J.
AU - Swaminathan, Shanker
AU - Kim, Sungeun
AU - Shen, Li
AU - Risacher, Shannon L.
AU - Foroud, Tatiana
AU - Pankratz, Nathan
AU - Potkin, Steven G.
AU - Huentelman, Matthew J.
AU - Craig, David W.
AU - Weiner, Michael W.
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
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U2 - 10.4061/2011/729478
DO - 10.4061/2011/729478
M3 - Article
C2 - 21660214
AN - SCOPUS:80052686733
SN - 2090-8024
JO - International Journal of Alzheimer's Disease
JF - International Journal of Alzheimer's Disease
M1 - 729478
ER -