Integrated copy number and gene expression analysis detects a CREB1 association with Alzheimers disease

Y. Li, C. A. Shaw, I. Sheffer, N. Sule, Suzanne Zein-Eldin Powell, B. Dawson, S. N.Y. Zaidi, K. L. Bucasas, J. R. Lupski, K. C. Wilhelmsen, R. Doody, K. Szigeti

Research output: Contribution to journalArticle

11 Scopus citations

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 languageEnglish (US)
Article numbere192
JournalTranslational Psychiatry
Volume2
DOIs
StatePublished - 2012

Keywords

  • Alzheimer's disease
  • eQTL
  • multi-omics

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Biological Psychiatry
  • Cellular and Molecular Neuroscience

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