Document Detail

Association of Ala72Ser polymorphism with COMT enzyme activity and the risk of schizophrenia in Koreans.
MedLine Citation:
PMID:  15645182     Owner:  NLM     Status:  MEDLINE    
Catechol-O-methyltransferase (COMT) inactivates circulating catechol hormones, catechol neurotransmitters, and xenobiotic catecholamines by methylating their catechol moieties. The COMT gene has been suggested as a candidate gene for schizophrenia through linkage analyses and molecular studies of velo-cardio-facial syndrome. A coding polymorphism of the COMT gene at codon 108/158 (soluble/membrane-bound form) causing a valine to methionine substitution has been shown to influence enzyme activity, but its association with schizophrenia is inconclusive. We have screened 17 known polymorphisms of the COMT gene in 320 Korean schizophrenic patients and 379 controls to determine whether there is a positive association with a nonsynonymous single-nucleotide polymorphism (rs6267) at codon 22/72 (soluble/membrane-bound form) causing an alanine-to-serine (Ala/Ser) substitution. With the Ala/Ala genotype as a reference group, the combined genotype (Ala/Ser and Ser/Ser)-specific adjusted odds ratio was 1.82 (95% CI = 1.19-2.76; P = 0.005), suggesting the Ser allele as a risk allele for schizophrenia. However, the Val/Met polymorphism was not associated with an increased risk of schizophrenia in Koreans (OR = 0.88, 95% CI = 0.64-1.21; P = 0.43). The Ala72Ser substitution was correlated with reduced COMT enzyme activity. Our results support previous reports that the COMT haplotype implicated in schizophrenia is associated with low COMT expression.
Seong-Gene Lee; Yeonho Joo; Byungsu Kim; Seockhoon Chung; Hie-Lim Kim; Inchul Lee; Boyoul Choi; Changyoon Kim; Kyuyoung Song
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2005-01-12
Journal Detail:
Title:  Human genetics     Volume:  116     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  2005 Mar 
Date Detail:
Created Date:  2005-02-15     Completed Date:  2005-04-18     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  319-28     Citation Subset:  IM    
Asan Institute for Life Sciences, University of Ulsan College of Medicine, Poongnap-Dong, Songpa-Gu, Seoul, 138-736, Korea.
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MeSH Terms
Alanine / genetics*
Base Sequence
Catechol O-Methyltransferase / genetics,  metabolism*
DNA Primers
Genetic Predisposition to Disease*
Polymorphism, Single Nucleotide*
Schizophrenia / genetics*
Serine / genetics*
Reg. No./Substance:
0/DNA Primers; 56-41-7/Alanine; 56-45-1/Serine; EC O-Methyltransferase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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