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GWAS Study

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

Papassotiropoulos A, Stefanova E, Vogler C et al.

22105620 PubMed ID
GWAS Study Type
1597 Participants
63 Views
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

PA
Papassotiropoulos A
SE
Stefanova E
VC
Vogler C
GL
Gschwind L
AS
Ackermann S
SK
Spalek K
RB
Rasch B
HA
Heck A
AA
Aerni A
HE
Hanser E
DP
Demougin P
HK
Huynh KD
LR
Luechinger R
KM
Klarhöfer M
NI
Novakovic I
KV
Kostic V
BP
Boesiger P
SK
Scheffler K
DQ
de Quervain DJ
Chapter II

Abstract

Summary of the research findings

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.

1,073 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

1597
Total Participants
GWAS
Study Type
Yes
Replicated
524 individuals
Replication Participants
European
Ancestry
Serbia, Switzerland
Recruitment Country
Chapter IV

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