title: Association study of CHRFAM7A copy number and 2 bp deletion polymorphisms with schizophrenia and bipolar affective disorder.
abstract: Schizophrenia and bipolar disorder are major psychiatric diseases that have a strong genetic element. Markers in the vicinity of the CHRNA7 gene at 15q13-q14 have been linked with an endophenotype of schizophrenia, P50 sensory gating disorder, with schizophrenia itself and with bipolar disorder. We have measured the copy number of the polymorphic partial duplication of CHRNA7 (CHRFAM7A) and genotyped a polymorphic 2 bp deletion within exon 6 of CHRFAM7A. In this study, 208 probands with a primary diagnosis of schizophrenia, 217 with a diagnosis of bipolar affective disorder and 28 with schizoaffective or other psychotic disorders were examined together with 197 controls recruited from the same region in Scotland. No significant association was seen for schizophrenia and bipolar disorder by genotype or allele overall for either polymorphism, but a mildly significant association by genotype (P = 0.04) was observed for absence of CHRFAM7A when the sample was analyzed as a single psychosis phenotype.
authors.affiliation: Division of Psychological Medicine, Institute of Psychiatry, King's College London, London, United Kingdom. r.flomen@iop.kcl.ac.uk
authors.forename: Rachel H
authors.initials: RH
authors.lastname: Flomen
authors.forename: David A
authors.initials: DA
authors.lastname: Collier
authors.forename: Sarah
authors.initials: S
authors.lastname: Osborne
authors.forename: Janet
authors.initials: J
authors.lastname: Munro
authors.forename: Gerome
authors.initials: G
authors.lastname: Breen
authors.forename: David
authors.initials: D
authors.lastname: St Clair
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Makoff
mesh_terms: D001483:Base Sequence; D001714:Bipolar Disorder / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D017931:DNA Primers; D006801:Humans; D011110:Polymorphism, Genetic; D011978:Receptors, Nicotinic / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*; D064569:alpha7 Nicotinic Acetylcholine Receptor
chemical_list: C579167:Chrna7 protein, human; D017931:DNA Primers; D011978:Receptors, Nicotinic; D064569:alpha7 Nicotinic Acetylcholine Receptor