title: A neuregulin 1 variant associated with abnormal cortical function and psychotic symptoms.
abstract: 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.
authors.affiliation: Division of Psychiatry, University of Edinburgh, Royal Edinburgh Hospital, Morningside Park, Edinburgh, EH10 5HF, UK. jhall5@staffmail.ed.ac.uk
authors.forename: Jeremy
authors.initials: J
authors.lastname: Hall
authors.forename: Heather C
authors.initials: HC
authors.lastname: Whalley
authors.forename: Dominic E
authors.initials: DE
authors.lastname: Job
authors.forename: Ben J
authors.initials: BJ
authors.lastname: Baig
authors.forename: Andrew M
authors.initials: AM
authors.lastname: McIntosh
authors.forename: Kathryn L
authors.initials: KL
authors.lastname: Evans
authors.forename: Pippa A
authors.initials: PA
authors.lastname: Thomson
authors.forename: David J
authors.initials: DJ
authors.lastname: Porteous
authors.forename: David G
authors.initials: DG
authors.lastname: Cunningham-Owens
authors.forename: Eve C
authors.initials: EC
authors.lastname: Johnstone
authors.forename: Stephen M
authors.initials: SM
authors.lastname: Lawrie
mesh_terms: 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
chemical_list: C094131:NRG1 protein, human; D009419:Nerve Tissue Proteins; D020890:Neuregulin-1