Association study of CHRFAM7A copy number and 2bp deletion polymorphisms with schizophrenia and bipolar affective disorder

Rachel H. Flomen, David A. Collier, Sarah Osborne, Janet Munro, Gerome Breen, David Malcolm St Clair, Andrew J. Makoff

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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 2bp 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. (c) 2006 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)571-575
Number of pages5
JournalAmerican Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Issue number6
Publication statusPublished - 2006


  • copy number polymorphism
  • CHRNA7
  • schizophrenia
  • bipolar disorder
  • receptor subunit gene
  • juvenile myoclonic epilepsy
  • Scottish population
  • chromosome-15 locus
  • linkage analysis
  • no evidence
  • risk factor
  • duplication
  • families

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