An intron 1 polymorphism in the cholecystokinin-A receptor gene associated with schizophrenia in males

P Koefoed, T V O Hansen, D P D Woldbye, Thomas Werge, O Mors, Thomas F Hansen, Klaus Damgaard Jakobsen, M Nordentoft, August G. Wang, T G Bolwig, J F Rehfeld

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15 Citations (Scopus)


OBJECTIVE: To identify whether a genetic variation (rs1800857; IVS1-5T>C) in the neuropeptide cholecystokinin-A receptor (CCKAR) gene is a risk factor in the pathogenesis of schizophrenia. METhod: The variation was analysed in a case-control design comprising 508 patients with schizophrenia and 1619 control subjects. A possible functional impact of this variant on CCKAR protein synthesis through alterations in splicing was analysed in an exon-trapping assay. RESULTS: In males only, the risk variant, IVS1-5C, was associated with a significantly increased risk of schizophrenia. Carrying one risk allele was associated with an increased risk of 1.74 (Odds Ratio, OR) and homozygosity (CC) was associated with an OR of 3.19. The variation had no impact on protein synthesis of CCKAR. CONCLUSION: This is the first report associating the CCKAR gene variant with schizophrenia specifically in men. Our study strengthens the conclusion that a CCKAR dysfunction could be involved in the aetiology of schizophrenia.
Original languageEnglish
Pages (from-to)281-287
Number of pages7
JournalActa Psychiatrica Scandinavica
Issue number4
Publication statusPublished - 10 Sept 2009


  • adult
  • case-control study
  • chromosomes
  • pair 4
  • Denmark
  • diagnostic and statistical manual of mental disorders
  • female
  • gene expression
  • international classification of diseases
  • introns
  • male
  • polymorphism
  • single nucleotide
  • RNS splice sites
  • messenger
  • receptor
  • cholecystokinin A
  • schizophrenia
  • severity of illness index
  • sex distribution


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