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Association between polymorphisms in the type 1 sigma receptor gene and schizophrenia.

Abstract
Several antipsychotic agents such as haloperidol and rimcazole are known to bind to sigma receptors with high affinity, and evidence for a potential link between sigma receptors and the etiology of schizophrenia has been reported. The present study was conducted to systematically search for nucleotide variants of the type 1 sigma receptor gene in 48 schizophrenics. Two polymorphisms were found: GC-241-240TT in the 5' flanking region and Gln2Pro. These two polymorphisms were in nearly complete linkage disequilibrium with each other. The Pro2 variant of the Gln2Pro polymorphism changes the endoplasmic reticulum retention signal motif. These polymorphisms were examined in an extended sample of schizophrenics (n = 308) and controls (n = 433) and a significant association between the presence of the TT/Pro2 haplotype and schizophrenia was observed (odds ratio = 1.27, P = 0.04).
AuthorsH Ishiguro, T Ohtsuki, M Toru, M Itokawa, J Aoki, H Shibuya, A Kurumaji, Y Okubo, A Iwawaki, K Ota, H Shimizu, H Hamaguchi, T Arinami
JournalNeuroscience letters (Neurosci Lett) Vol. 257 Issue 1 Pg. 45-8 (Nov 20 1998) ISSN: 0304-3940 [Print] Ireland
PMID9857962 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • DNA Primers
  • Receptors, sigma
  • Glutamine
  • Proline
Topics
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • DNA Primers
  • Female
  • Gene Frequency
  • Genetic Linkage
  • Glutamine (genetics)
  • Humans
  • Japan
  • Male
  • Middle Aged
  • Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Genetic (genetics)
  • Proline (genetics)
  • Receptors, sigma (genetics)
  • Schizophrenia (genetics)

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