Variants in the catechol-o-methyltransferase (COMT) gene are associated with schizophrenia in Irish high-density families.

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  • Author(s): Chen X;Chen X; Wang X; O'Neill AF; Walsh D; Kendler KS
  • Source:
    Molecular psychiatry [Mol Psychiatry] 2004 Oct; Vol. 9 (10), pp. 962-7.
  • Publication Type:
    Journal Article; Research Support, U.S. Gov't, P.H.S.
  • Language:
    English
  • Additional Information
    • Source:
      Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print Cited Medium: Print ISSN: 1359-4184 (Print) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE
    • Publication Information:
      Publication: 2000- : Houndmills, Basingstoke, UK : Nature Publishing Group Specialist Journals
      Original Publication: Houndmills, Hampshire, UK ; New York, NY : Stockton Press, c1996-
    • Subject Terms:
      Polymorphism, Single Nucleotide*; Catechol O-Methyltransferase/*genetics ; Schizophrenia/*enzymology ; Schizophrenia/*genetics; Alleles ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Haplotypes/genetics ; Humans ; Ireland/epidemiology ; Jews/genetics ; Linkage Disequilibrium ; Male ; Risk ; Schizophrenia/epidemiology
    • Abstract:
      The enzyme catechol-o-methyltransferase (COMT) transfers a methyl group from adenosylmethionine to catecholamines including the neurotransmitters dopamine, epinephrine and norepinephrine. This methylation results in the degradation of catecholamines. The involvement of the COMT gene in the metabolic pathway of these neurotransmitters has made it an attractive candidate gene for many psychiatric disorders. In this article, we reported our study of association of COMT with schizophrenia in Irish families with a high density of schizophrenia. Three single nucleotide polymorphisms (SNPs) were genotyped for the 274 such families and within-family transmission disequilibrium tests were performed. SNP rs4680, which is the functional Val/Met polymorphism, showed modest association with the disease by the TRANSMIT, FBAT and PDT programs, while the other two SNPs were negative. These SNPs showed lower level of LDs with each other in the Irish subjects than in Ashkenazi Jews. Haplotype analysis indicated that a haplotype, haplotype A-G-A for SNPs rs737865-rs4680-rs165599, was preferentially transmitted to the affected subjects. This was different from the reported G-G-G haplotype found in Ashkenazi Jews, but both haplotypes shared the Val allele. We concluded that COMT gene is associated with schizophrenia and carries a small but significant risk to the susceptibility in the Irish subjects.
    • Grant Information:
      R01 MH 41953 United States MH NIMH NIH HHS
    • Accession Number:
      EC 2.1.1.6 (Catechol O-Methyltransferase)
    • Publication Date:
      Date Created: 20040505 Date Completed: 20050215 Latest Revision: 20071114
    • Publication Date:
      20240104
    • Accession Number:
      10.1038/sj.mp.4001519
    • Accession Number:
      15124004