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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2007-7-13
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pubmed:abstractText |
To identify low-penetrance genes related to sporadic essential tremor (ET) at the CYP2C locus, located in chromosome 10 q23.33. Leukocytary DNA from 200 ET patients and a control group of 300 unrelated healthy individuals with known CYP2C19 genotypes was studied for common CYP2C8 and CYP2C9 allelic variants by using amplification-restriction analyses. Patients with ET showed the following differences compared with healthy subjects: a 1.6-fold reduction in the frequency for CYP2C8*3 (p=0.006), a 1.35-fold reduction of CYP2C9*2 (p=0.05) and a 1.52-fold reduction in the frequency for CYP2C9*3 (p=0.07). The frequency for patients with ET carrying at least one defective allele was 1.33-fold reduced as compared with healthy subjects (p=0.002). In addition, a disruption of the CYP2C8*3/CYP2C9*2 linkage disequilibrium was observed in ET patients, with a 2.1-fold reduction in the percentage for carriers of the haplotype CYP2C8*3 plus CYP2C9*2 in ET patients (p=0.0001). These findings were independent of gender, age, age of onset, or clinical symptoms. These results suggest that alterations at the CYP2C gene locus are associated with the risk for ET.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1535-1084
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pubmed:author |
pubmed-author:AgúndezJosé A GJA,
pubmed-author:Alonso-NavarroHortensiaH,
pubmed-author:Benito-LeónJuliánJ,
pubmed-author:García-FerrerIsabelI,
pubmed-author:García-MartínElenaE,
pubmed-author:Jiménez-JiménezFélix JavierFJ,
pubmed-author:López-AlburquerqueTomásT,
pubmed-author:MartínezCarmenC,
pubmed-author:PuertasInmaculadaI,
pubmed-author:Vázquez-TorresPilarP,
pubmed-author:ZurdoJosé MJM
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pubmed:issnType |
Print
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pubmed:volume |
9
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
195-204
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:17627038-Adult,
pubmed-meshheading:17627038-Aged,
pubmed-meshheading:17627038-Aged, 80 and over,
pubmed-meshheading:17627038-Alleles,
pubmed-meshheading:17627038-Aryl Hydrocarbon Hydroxylases,
pubmed-meshheading:17627038-Cytochrome P-450 Enzyme System,
pubmed-meshheading:17627038-Essential Tremor,
pubmed-meshheading:17627038-Female,
pubmed-meshheading:17627038-Genetic Linkage,
pubmed-meshheading:17627038-Genetic Predisposition to Disease,
pubmed-meshheading:17627038-Genotype,
pubmed-meshheading:17627038-Humans,
pubmed-meshheading:17627038-Linkage Disequilibrium,
pubmed-meshheading:17627038-Male,
pubmed-meshheading:17627038-Middle Aged,
pubmed-meshheading:17627038-Risk Factors
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pubmed:year |
2007
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pubmed:articleTitle |
Changes at the CYP2C locus and disruption of CYP2C8/9 linkage disequilibrium in patients with essential tremor.
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pubmed:affiliation |
Department of Pharmacology and Psychiatry, Medical School, University of Extremadura, Badajoz, and Department of Medicine-Neurology, Príncipe de Asturias Hospital, Alcalá de Henares, Madrid, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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