A neuregulin 1 variant associated with abnormal cortical function and psychotic symptoms.
NRG1, encoding neuregulin 1, is a susceptibility gene for schizophrenia, but no functional mutation causally related to the disorder has yet been identified. Here we investigate the effects of a variant in the human NRG1 promoter region in subjects at high risk of schizophrenia. We show that this variant is associated with (i) decreased activation of frontal and temporal lobe regions, (ii) increased development of psychotic symptoms and (iii) decreased premorbid IQ.
Hall
Jeremy
J
Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Morningside Park, Edinburgh, EH10 5HF, UK. jhall5@staffmail.ed.ac.uk
Whalley
Heather C
HC
Job
Dominic E
DE
Baig
Ben J
BJ
McIntosh
Andrew M
AM
Evans
Kathryn L
KL
Thomson
Pippa A
PA
Porteous
David J
DJ
Cunningham-Owens
David G
DG
Johnstone
Eve C
EC
Lawrie
Stephen M
SM
D000328:Adult; D001931:Brain Mapping; D002540:Cerebral Cortex / Q000503:physiopathology*; D003071:Cognition / Q000502:physiology; D015331:Cohort Studies; D005260:Female; D005625:Frontal Lobe / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D006801:Humans; D007360:Intelligence / Q000235:genetics; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D020890:Neuregulin-1; D020641:Polymorphism, Single Nucleotide; D011618:Psychotic Disorders / Q000150:complications / Q000235:genetics*; D012307:Risk Factors; D012559:Schizophrenia / Q000150:complications / Q000235:genetics*; D013702:Temporal Lobe / Q000503:physiopathology
C094131:NRG1 protein, human; D009419:Nerve Tissue Proteins; D020890:Neuregulin-1