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Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease.

ABSTRACT: Genetic variation, both single-nucleotide variations and copy number variations (CNV), contribute to changes in gene expression. In some cases these variations are meaningfully correlated with disease states. We hypothesized that in a genetically heterogeneous disorder such as sporadic Alzheimer's disease (AD), utilizing gene expression as a quantitative trait and CNVs as a genetic marker map within the same individuals in the context of case-control status may increase the power to detect relevant loci. Using this approach an 8-kb deletion was identified that contains a PAX6-binding site on chr2q33.3 upstream of CREB1 encoding the cAMP responsive element-binding protein1 transcription factor. The association of the CNV to AD was confirmed by a case-control association study consisting of the Texas Alzheimer Research and Care Consortium and NIA-LOAD Family Study data sets.

SUBMITTER: Li Y 

PROVIDER: S-EPMC3565761 | biostudies-literature | 2012 Nov

REPOSITORIES: biostudies-literature

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Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimer's disease.

Li Y Y   Shaw C A CA   Sheffer I I   Sule N N   Powell S Z SZ   Dawson B B   Zaidi S N Y SN   Bucasas K L KL   Lupski J R JR   Wilhelmsen K C KC   Doody R R   Szigeti K K  

Translational psychiatry 20121120

Genetic variation, both single-nucleotide variations and copy number variations (CNV), contribute to changes in gene expression. In some cases these variations are meaningfully correlated with disease states. We hypothesized that in a genetically heterogeneous disorder such as sporadic Alzheimer's disease (AD), utilizing gene expression as a quantitative trait and CNVs as a genetic marker map within the same individuals in the context of case-control status may increase the power to detect relev  ...[more]

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