A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.
The Abelson helper integration site 1 (AHI1) gene locus on chromosome 6q23 is among a group of candidate loci for schizophrenia susceptibility that were initially identified by linkage followed by linkage disequilibrium mapping, and subsequent replication of the association in an independent sample. Here, we present results of a replication study of AHI1 locus markers, previously implicated in schizophrenia, in a large European sample (in total 3907 affected and 7429 controls). Furthermore, we perform a meta-analysis of the implicated markers in 4496 affected and 18,920 controls. Both the replication study of new samples and the meta-analysis show evidence for significant overrepresentation of all tested alleles in patients compared with controls (meta-analysis; P = 8.2 x 10(-5)-1.7 x 10(-3), common OR = 1.09-1.11). The region contains two genes, AHI1 and C6orf217, and both genes-as well as the neighbouring phosphodiesterase 7B (PDE7B)-may be considered candidates for involvement in the genetic aetiology of schizophrenia.
Ingason
Andrés
A
Research Institute of Biological Psychiatry, Copenhagen University Hospital, Roskilde, Denmark. andres.ingason@shh.regionh.dk
Giegling
Ina
I
Cichon
Sven
S
Hansen
Thomas
T
Rasmussen
Henrik B
HB
Nielsen
Jimmi
J
Jürgens
Gesche
G
Muglia
Pierandrea
P
Hartmann
Annette M
AM
Strengman
Eric
E
Vasilescu
Catalina
C
Mühleisen
Thomas W
TW
Djurovic
Srdjan
S
Melle
Ingrid
I
Lerer
Bernard
B
Möller
Hans-Jürgen
HJ
Francks
Clyde
C
Pietiläinen
Olli P H
OP
Lonnqvist
Jouko
J
Suvisaari
Jaana
J
Tuulio-Henriksson
Annamari
A
Walshe
Muriel
M
Vassos
Evangelos
E
Di Forti
Marta
M
Murray
Robin
R
Bonetto
Chiara
C
Tosato
Sarah
S
Cantor
Rita M
RM
Rietschel
Marcella
M
Craddock
Nick
N
Owen
Michael J
MJ
Peltonen
Leena
L
Andreassen
Ole A
OA
Nöthen
Markus M
MM
St Clair
David
D
Ophoff
Roel A
RA
O'Donovan
Michael C
MC
Collier
David A
DA
Werge
Thomas
T
Rujescu
Dan
D
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D033942:Adaptor Proteins, Vesicular Transport; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D012559:Schizophrenia / Q000235:genetics*; D044465:White People / Q000235:genetics
C487178:AHI1 protein, human; D048868:Adaptor Proteins, Signal Transducing; D033942:Adaptor Proteins, Vesicular Transport; D005819:Genetic Markers