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HapMap tag-SNP analysis confirms a role for COMT in schizophrenia risk and reveals a novel association119.25 kB
Accepted VersionCC BY-NC-ND V4.0, Open Access
Journal article
HapMap tag-SNP analysis confirms a role for COMT in schizophrenia risk and reveals a novel association
European Psychiatry, Vol.27(5), pp.372-376
2012
PMID: 20934310
Abstract
Catechol-O-methyl transferase (COMT) encodes an enzyme involved in the metabolism of dopamine and maps to a commonly deleted region that increases schizophrenia risk. A non-synonymous polymorphism (rs4680) in COMT has been previously found to be associated with schizophrenia and results in altered activity levels of COMT. Using a haplotype block-based gene-tagging approach we conducted an association study of seven COMT single nucleotide polymorphisms (SNPs) in 160 patients with a DSM-IV diagnosis of schizophrenia and 250 controls in an Australian population. Two polymorphisms including rs4680 and rs165774 were found to be significantly associated with schizophrenia. The rs4680 results in a Val/Met substitution but the strongest association was shown by the novel SNP, rs165774, which may still be functional even though it is located in intron five. Individuals with schizophrenia were more than twice as likely to carry the GG genotype compared to the AA genotype for both the rs165774 and rs4680 SNPs. This association was slightly improved when males were analysed separately possibly indicating a degree of sexual dimorphism. Our results confirm that COMT is a good candidate for schizophrenia risk, by replicating the association with rs4680 and identifying a novel SNP association.
Details
- Title
- HapMap tag-SNP analysis confirms a role for COMT in schizophrenia risk and reveals a novel association
- Authors
- Joanne Voisey (Author) - Queensland University of TechnologyChristopher D Swagell (Author) - Queensland University of TechnologyIan P Hughes (Author) - Queensland University of TechnologyBruce R Lawford (Author) - Queensland University of TechnologyRoss Young (Author) - Queensland University of TechnologyC Phillip Morris (Author) - Queensland University of Technology
- Publication details
- European Psychiatry, Vol.27(5), pp.372-376
- Publisher
- Cambridge University Press
- Date published
- 2012
- DOI
- 10.1016/j.eurpsy.2010.08.004
- ISSN
- 1778-3585; 0924-9338
- PMID
- 20934310
- Copyright note
- Copyright © 2012. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
- Organisation Unit
- University of the Sunshine Coast, Queensland; Office of the Deputy Vice-Chancellor (Research and Innovation)
- Language
- English
- Record Identifier
- 99550996102621
- Output Type
- Journal article
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