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GWAS Study

A genome-wide survey of human short-term memory.

Papassotiropoulos A, Henke K, Stefanova E et al.

20038948 PubMed ID
GWAS Study Type
2032 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

PA
Papassotiropoulos A
HK
Henke K
SE
Stefanova E
AA
Aerni A
MA
Müller A
DP
Demougin P
VC
Vogler C
SJ
Sigmund JC
GL
Gschwind L
HK
Huynh KD
CD
Coluccia D
MC
Mondadori CR
HJ
Hänggi J
BA
Buchmann A
KV
Kostic V
NI
Novakovic I
VD
van den Bussche H
KH
Kaduszkiewicz H
WS
Weyerer S
BH
Bickel H
RS
Riedel-Heller S
PM
Pentzek M
WB
Wiese B
DM
Dichgans M
WM
Wagner M
JF
Jessen F
MW
Maier W
DQ
de Quervain DJ
Chapter II

Abstract

Summary of the research findings

Recent advances in the development of high-throughput genotyping platforms allow for the unbiased identification of genes and genomic sequences related to heritable traits. In this study, we analyzed human short-term memory, which refers to the ability to remember information over a brief period of time and which has been found disturbed in many neuropsychiatric conditions, including schizophrenia and depression. We performed a genome-wide survey at 909 622 polymorphic loci and report six genetic variations significantly associated with human short-term memory performance after genome-wide correction for multiple comparisons. A polymorphism within SCN1A (encoding the α subunit of the type I voltage-gated sodium channel) was replicated in three independent populations of 1699 individuals. Functional magnetic resonance imaging during an n-back working memory task detected SCN1A allele-dependent activation differences in brain regions typically involved in working memory processes. These results suggest an important role for SCN1A in human short-term memory.

333 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

2032
Total Participants
GWAS
Study Type
Yes
Replicated
777 European ancestry young individuals, 922 European ancestry elderly individuals
Replication Participants
European
Ancestry
Switzerland, Germany
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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