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Predicate | Object |
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rdf:type | |
lifeskim:mentions |
umls-concept:C0002085,
umls-concept:C0020792,
umls-concept:C0021149,
umls-concept:C0031437,
umls-concept:C0032659,
umls-concept:C0152035,
umls-concept:C0392760,
umls-concept:C0522498,
umls-concept:C0596988,
umls-concept:C1332828,
umls-concept:C1551910,
umls-concept:C1705241,
umls-concept:C1705242,
umls-concept:C1882417
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pubmed:issue |
1
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pubmed:dateCreated |
1997-5-2
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pubmed:abstractText |
The incidence of the S-mephenytoin polymorphism was compared in two Chinese ethnic groups, Han (n = 101) and Bai (n = 202) by phenotype and genotype analysis. The frequency of poor metabolizers (PMs) in Han vs. Bai subjects was 19.8% vs. 13.4%. Han subjects had a higher frequency of the mutant CYP2C19m1 allele (0.366 vs. 0.257, P < .01) and a lower frequency of the wild-type allele (0.559 vs. 0.688, P < .01) than Bai subjects, which is consistent with the difference in the frequencies of PMs between the two ethnic groups. This results in a lower percentage of homozygous wild-type extensive metabolizers of mephenytoin (EMs) in Han subjects than in Bai subjects (40% vs. 59%, P = .005). Therefore, Han subjects may be more susceptible than Bai subjects to the drugs metabolized by the CYP2C19 enzyme. Ratios of urinary S/R-mephenytoin in homozygous EMs were lower than those of heterozygous EMs for both Han and Bai subjects, which shows a gene-dosage effect. Genotype analysis identified all but one PM as homozygous or heterozygous for the two known mutant CYP2C19m1 and/or CYP2C19m2 alleles. A single Bai PM outlier was shown to be heterozygous for CYP2C19m1 and a new mutant CYP2C19 allele containing a single amino acid change of Arg433 --> Trp433. A genotyping test demonstrated that only this one individual carried this rare allele (frequency of 0.0025 in Bai subjects).
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/Aryl Hydrocarbon Hydroxylases,
http://linkedlifedata.com/resource/pubmed/chemical/CYP2C19 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Cytochrome P-450 Enzyme System,
http://linkedlifedata.com/resource/pubmed/chemical/Mixed Function Oxygenases
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
0022-3565
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
281
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
604-9
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:9103550-Alleles,
pubmed-meshheading:9103550-Aryl Hydrocarbon Hydroxylases,
pubmed-meshheading:9103550-China,
pubmed-meshheading:9103550-Cytochrome P-450 Enzyme System,
pubmed-meshheading:9103550-Female,
pubmed-meshheading:9103550-Genotype,
pubmed-meshheading:9103550-Humans,
pubmed-meshheading:9103550-Male,
pubmed-meshheading:9103550-Mixed Function Oxygenases,
pubmed-meshheading:9103550-Mutation,
pubmed-meshheading:9103550-Phenotype,
pubmed-meshheading:9103550-Polymorphism, Genetic
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pubmed:year |
1997
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pubmed:articleTitle |
Differences in the incidence of the CYP2C19 polymorphism affecting the S-mephenytoin phenotype in Chinese Han and Bai populations and identification of a new rare CYP2C19 mutant allele.
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pubmed:affiliation |
Pharmacogenetics Research Institute, Hunan Medical University, Changsha, People's Republic of China.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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