Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families.
Identifieur interne : 001572 ( PubMed/Corpus ); précédent : 001571; suivant : 001573Mutation frequencies of the cytochrome CYP2D6 gene in Parkinson disease patients and in families.
Auteurs : G. Lucotte ; J C Turpin ; N. Gérard ; S. Panserat ; R. KrishnamoorthySource :
- American journal of medical genetics [ 0148-7299 ] ; 1996.
English descriptors
- KwdEn :
- Aged, Confidence Intervals, Cytochrome P-450 CYP2D6 (genetics), Family, Female, Genotype, Humans, Male, Mutation, Parkinson Disease (enzymology), Parkinson Disease (epidemiology), Parkinson Disease (genetics), Pedigree, Phenotype, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Reference Values, Risk Factors.
- MESH :
- chemical , genetics : Cytochrome P-450 CYP2D6.
- enzymology : Parkinson Disease.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease.
- Aged, Confidence Intervals, Family, Female, Genotype, Humans, Male, Mutation, Pedigree, Phenotype, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Reference Values, Risk Factors.
Abstract
The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 patients with Parkinson disease, and compared with the findings in 47 healthy controls. These mutant alleles were about twice as frequent among patients as in controls, with an approximate relative risk ratio of 2.12 (95% confidence interval, 1.41-2.62). There seem to be no significant differences in frequencies of mutant genotypes in patients among gender and modalities of response with levodopa therapy; but frequency of the mutations was slightly enhanced after age-at-onset of 60 years. Mutations D6-B, D, and T were detected in 7 patients belonging to 10 Parkinson pedigrees.
DOI: 10.1002/(SICI)1096-8628(19960726)67:4<361::AID-AJMG8>3.0.CO;2-P
PubMed: 8837703
Links to Exploration step
pubmed:8837703Le document en format XML
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<author><name sortKey="Lucotte, G" sort="Lucotte, G" uniqKey="Lucotte G" first="G" last="Lucotte">G. Lucotte</name>
<affiliation><nlm:affiliation>Regional Center of Neurogenetics, CHR of Reims, France.</nlm:affiliation>
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<author><name sortKey="Turpin, J C" sort="Turpin, J C" uniqKey="Turpin J" first="J C" last="Turpin">J C Turpin</name>
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<author><name sortKey="Gerard, N" sort="Gerard, N" uniqKey="Gerard N" first="N" last="Gérard">N. Gérard</name>
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<author><name sortKey="Panserat, S" sort="Panserat, S" uniqKey="Panserat S" first="S" last="Panserat">S. Panserat</name>
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<author><name sortKey="Krishnamoorthy, R" sort="Krishnamoorthy, R" uniqKey="Krishnamoorthy R" first="R" last="Krishnamoorthy">R. Krishnamoorthy</name>
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<author><name sortKey="Lucotte, G" sort="Lucotte, G" uniqKey="Lucotte G" first="G" last="Lucotte">G. Lucotte</name>
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<term>Confidence Intervals</term>
<term>Cytochrome P-450 CYP2D6 (genetics)</term>
<term>Family</term>
<term>Female</term>
<term>Genotype</term>
<term>Humans</term>
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<term>Mutation</term>
<term>Parkinson Disease (enzymology)</term>
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<term>Polymerase Chain Reaction</term>
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<term>Male</term>
<term>Mutation</term>
<term>Pedigree</term>
<term>Phenotype</term>
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<front><div type="abstract" xml:lang="en">The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 patients with Parkinson disease, and compared with the findings in 47 healthy controls. These mutant alleles were about twice as frequent among patients as in controls, with an approximate relative risk ratio of 2.12 (95% confidence interval, 1.41-2.62). There seem to be no significant differences in frequencies of mutant genotypes in patients among gender and modalities of response with levodopa therapy; but frequency of the mutations was slightly enhanced after age-at-onset of 60 years. Mutations D6-B, D, and T were detected in 7 patients belonging to 10 Parkinson pedigrees.</div>
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<Abstract><AbstractText>The frequencies of five mutations of the debrisoquine 4-hydroxylase (CYP2D6) gene (mutations D6-A, B, C, D, and T), corresponding to poor metabolizer (PM) phenotypes, were determined by restriction fragment length polymorphism (RFLP) and polymerase chain reaction (PCR) in 47 patients with Parkinson disease, and compared with the findings in 47 healthy controls. These mutant alleles were about twice as frequent among patients as in controls, with an approximate relative risk ratio of 2.12 (95% confidence interval, 1.41-2.62). There seem to be no significant differences in frequencies of mutant genotypes in patients among gender and modalities of response with levodopa therapy; but frequency of the mutations was slightly enhanced after age-at-onset of 60 years. Mutations D6-B, D, and T were detected in 7 patients belonging to 10 Parkinson pedigrees.</AbstractText>
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