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GWAS Study

The neuronal transporter gene SLC6A15 confers risk to major depression.

Kohli MA, Lucae S, Saemann PG et al.

21521612 PubMed ID
GWAS Study Type
15679 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

KM
Kohli MA
LS
Lucae S
SP
Saemann PG
SM
Schmidt MV
DA
Demirkan A
HK
Hek K
CD
Czamara D
AM
Alexander M
SD
Salyakina D
RS
Ripke S
HD
Hoehn D
SM
Specht M
MA
Menke A
HJ
Hennings J
HA
Heck A
WC
Wolf C
IM
Ising M
SS
Schreiber S
CM
Czisch M
MM
Müller MB
UM
Uhr M
BT
Bettecken T
BA
Becker A
SJ
Schramm J
RM
Rietschel M
MW
Maier W
BB
Bradley B
RK
Ressler KJ
NM
Nöthen MM
CS
Cichon S
CI
Craig IW
BG
Breen G
LC
Lewis CM
HA
Hofman A
TH
Tiemeier H
VD
van Duijn CM
HF
Holsboer F
MB
Müller-Myhsok B
BE
Binder EB
Chapter II

Abstract

Summary of the research findings

Major depression (MD) is one of the most prevalent psychiatric disorders and a leading cause of loss in work productivity. A combination of genetic and environmental risk factors probably contributes to MD. We present data from a genome-wide association study revealing a neuron-specific neutral amino acid transporter (SLC6A15) as a susceptibility gene for MD. Risk allele carrier status in humans and chronic stress in mice were associated with a downregulation of the expression of this gene in the hippocampus, a brain region implicated in the pathophysiology of MD. The same polymorphisms also showed associations with alterations in hippocampal volume and neuronal integrity. Thus, decreased SLC6A15 expression, due to genetic or environmental factors, might alter neuronal circuits related to the susceptibility for MD. Our convergent data from human genetics, expression studies, brain imaging, and animal models suggest a pathophysiological mechanism for MD that may be accessible to drug targeting.

353 European ancestry cases, 366 European ancestry controls

Chapter III

Study Statistics

Key metrics and study information

15679
Total Participants
GWAS
Study Type
Yes
Replicated
991 African Americans, 4,308 European ancestry cases, 9,661 European ancestry controls
Replication Participants
European, African American or Afro-Caribbean
Ancestry
Netherlands, Germany, U.K., U.S.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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