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A genome-wide survey and functional brain imaging study identify CTNNBL1 as a memory-related gene.

Type of publication Peer-reviewed
Publikationsform Original article (peer-reviewed)
Author Papassotiropoulos A, Stefanova E, Vogler C, Gschwind L, Ackermann S, Spalek K, Rasch B, Heck A, Aerni A, Hanser E, Demougin P, Huynh K-D, Luechinger R, Klarhöfer M, Novakovic I, Kostic V, Boesiger P, Scheffler K, de Quervain D J-F,
Project KRAB/KAP1 epigenetic regulation in the control of memory and emotional traits: from mice to humans.
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Original article (peer-reviewed)

Journal Molecular psychiatry
Title of proceedings Molecular psychiatry
DOI 10.1038/mp.2011.148


Unbiased genome-wide screens combined with imaging data on brain function may identify novel molecular pathways related to human cognition. Here we performed a dense genome-wide screen to identify episodic memory-related gene variants. A genomic locus encoding the brain-expressed beta-catenin-like protein 1 (CTNNBL1) was significantly (P=7 × 10(-8)) associated with verbal memory performance in a cognitively healthy cohort from Switzerland (n=1073) and was replicated in a second cohort from Serbia (n=524; P=0.003). Gene expression studies showed CTNNBL1 genotype-dependent differences in beta-catenin-like protein 1 mRNA levels in the human cortex. Functional magnetic resonance imaging in 322 subjects detected CTNNBL1 genotype-dependent differences in memory-related brain activations. Converging evidence from independent experiments and different methodological approaches suggests a role for CTNNBL1 in human memory.Molecular Psychiatry advance online publication, 22 November 2011; doi:10.1038/mp.2011.148.