Linkage disequilibrium on the COMT gene in French schizophrenics and controls
| Autor: | M, de Chaldée, C, Laurent, F, Thibaut, M, Martinez, D, Samolyk, M, Petit, D, Campion, J, Mallet |
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| Rok vydání: | 1999 |
| Předmět: |
Adult
Male Chromosomes Human Pair 22 Exons Middle Aged Catechol O-Methyltransferase Linkage Disequilibrium Haplotypes Case-Control Studies Schizophrenia Humans Female France 5' Untranslated Regions 3' Untranslated Regions Alleles Polymorphism Restriction Fragment Length Polymorphism Single-Stranded Conformational |
| Zdroj: | American journal of medical genetics. 88(5) |
| ISSN: | 0148-7299 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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