HapMap tag-SNP analysis confirms a role for COMT in schizophrenia risk and reveals a novel association

Voisey, Joanne, Swagell, Christopher D., Hughes, Ian P., Lawford, Bruce R., Young, Ross McD., & Morris, C. Phillip (2010) HapMap tag-SNP analysis confirms a role for COMT in schizophrenia risk and reveals a novel association. European Psychiatry, 27(5), pp. 372-376.

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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.

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ID Code: 40599
Item Type: Journal Article
Refereed: Yes
Keywords: COMT; Schizophrenia; Genotyping; Polymorphism; Sexual dimorphism
DOI: 10.1016/j.eurpsy.2010.08.004
ISSN: 0924-9338
Subjects: Australian and New Zealand Standard Research Classification > MEDICAL AND HEALTH SCIENCES (110000) > NEUROSCIENCES (110900)
Divisions: Current > Institutes > Institute of Health and Biomedical Innovation
Copyright Owner: Copyright 2010 Elsevier
Copyright Statement: This is the author’s version of a work that was accepted for publication in European Psychiatry. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in European Psychiatry, [VOL 27, ISSUE 5, (2012)] DOI: 10.1016/j.eurpsy.2010.08.004
Deposited On: 09 Mar 2011 02:04
Last Modified: 04 Nov 2013 00:54

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