Source:http://linkedlifedata.com/resource/pubmed/id/10490696
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
5
|
| pubmed:dateCreated |
1999-11-17
|
| pubmed:abstractText |
Catechol-O-methyltransferase (COMT) catalyzes the degradation of catecholamines and could therefore play a role in the etiology of schizophrenia. Moreover, microdeletions including the COMT locus have been found in schizophrenics presenting typical features of the velo-cardio-facial syndrome. In the present work, five single-strand conformation polymorphisms were detected in exons of the COMT gene. The linkage disequilibria between the polymorphisms were estimated, and the genotypic frequencies were calculated on a sample of 126 to 137 schizophrenics and 136 to 140 controls, depending on the marker. Patients and controls were matched for ethnicity and geographical origin. A trend toward association was found between schizophrenia and (i) genotype 11 of the Pml I polymorphism (p = 0.034; OR = 1.82); (ii) haplotype 1-2 for the Pml I and Bcl I polymorphisms (p = 0.022; OR = 1.75). The Pml I polymorphism is in complete linkage disequilibrium with the common Met-->Val(158) substitution, which affects the activity of the enzyme. This finding suggests a possible minor effect of COMT in a multifactorial threshold model of vulnerability to schizophrenia.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
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| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Oct
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| pubmed:issn |
0148-7299
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
88
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| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
452-7
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| pubmed:dateRevised |
2006-11-15
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| pubmed:meshHeading |
pubmed-meshheading:10490696-3' Untranslated Regions,
pubmed-meshheading:10490696-5' Untranslated Regions,
pubmed-meshheading:10490696-Adult,
pubmed-meshheading:10490696-Alleles,
pubmed-meshheading:10490696-Case-Control Studies,
pubmed-meshheading:10490696-Catechol O-Methyltransferase,
pubmed-meshheading:10490696-Chromosomes, Human, Pair 22,
pubmed-meshheading:10490696-Exons,
pubmed-meshheading:10490696-Female,
pubmed-meshheading:10490696-France,
pubmed-meshheading:10490696-Haplotypes,
pubmed-meshheading:10490696-Humans,
pubmed-meshheading:10490696-Linkage Disequilibrium,
pubmed-meshheading:10490696-Male,
pubmed-meshheading:10490696-Middle Aged,
pubmed-meshheading:10490696-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:10490696-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:10490696-Schizophrenia
|
| pubmed:year |
1999
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| pubmed:articleTitle |
Linkage disequilibrium on the COMT gene in French schizophrenics and controls.
|
| pubmed:affiliation |
Laboratoire de Génétique Moléculaire de la Neurotransmission et des Processus Neurodégénératifs, Paris, France.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|