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 Alzheimers 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.
Original language | English (US) |
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Article number | e192 |
Journal | Translational Psychiatry |
Volume | 2 |
DOIs | |
State | Published - 2012 |
Keywords
- Alzheimer's disease
- eQTL
- multi-omics
ASJC Scopus subject areas
- Psychiatry and Mental health
- Biological Psychiatry
- Cellular and Molecular Neuroscience