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韩国人群中细胞色素P450 2C9突变等位基因的频率。

Frequency of cytochrome P450 2C9 mutant alleles in a Korean population.

作者信息

Yoon Y R, Shon J H, Kim M K, Lim Y C, Lee H R, Park J Y, Cha I J, Shin J G

机构信息

Department of Pharmacology, Inje University College of Medicine and Clinical Pharmacology Center, Pusan Paik Hospital, Korea.

出版信息

Br J Clin Pharmacol. 2001 Mar;51(3):277-80. doi: 10.1046/j.1365-2125.2001.00340.x.

DOI:10.1046/j.1365-2125.2001.00340.x
PMID:11298075
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2015024/
Abstract

AIMS

To determine the frequencies of CYP2C9 variants in the Korean population and compare them with the frequencies in other ethnic populations.

METHODS

Genotyping of CYP2C92 and CYP2C93 allelic variants was carried out in 574 Korean subjects by PCR and restriction fragment length pattern analysis.

RESULTS

Thirteen of 574 subjects (2.3%) were heterozygous for CYP2C93 (Ile359Leu), but no subjects with a CYP2C92 allele or homozygous for CYP2C93 were identified. The allele frequency of CYP2C93 in Korean subjects (0.0113, 95% CI 0.0066-0.0193) was similar to that of other East Asian populations, but was considerably lower than that of Caucasian populations.

CONCLUSIONS

CYP2C93 seems to be an allelic variant related to the functional polymorphism of CYP2C9, but this variant is rarely seen among Koreans compared with Caucasians. Routine genotyping of the CYP2C92 allele is considered to be unnecessary in Korean and East Asians, because this allele appears to be extremely rare or absent in these populations.

摘要

目的

确定韩国人群中CYP2C9变异体的频率,并与其他种族人群的频率进行比较。

方法

采用聚合酶链反应(PCR)和限制性片段长度多态性分析,对574名韩国受试者进行CYP2C92和CYP2C93等位基因变异体的基因分型。

结果

574名受试者中有13名(2.3%)为CYP2C93(Ile359Leu)杂合子,但未发现携带CYP2C92等位基因或CYP2C93纯合子的受试者。韩国受试者中CYP2C93的等位基因频率(0.0113,95%可信区间0.0066 - 0.0193)与其他东亚人群相似,但远低于白种人群。

结论

CYP2C93似乎是与CYP2C9功能多态性相关的等位基因变异体,但与白种人相比,该变异体在韩国人中很少见。在韩国人和东亚人中,常规检测CYP2C92等位基因被认为没有必要,因为该等位基因在这些人群中似乎极为罕见或不存在。

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本文引用的文献

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Br J Clin Pharmacol. 1999 Sep;48(3):409-15. doi: 10.1046/j.1365-2125.1999.00012.x.
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Biochem Biophys Res Commun. 1999 Jan 27;254(3):628-31. doi: 10.1006/bbrc.1998.9992.
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Comparisons between in-vitro and in-vivo metabolism of (S)-warfarin: catalytic activities of cDNA-expressed CYP2C9, its Leu359 variant and their mixture versus unbound clearance in patients with the corresponding CYP2C9 genotypes.(S)-华法林的体外与体内代谢比较:cDNA表达的CYP2C9及其Leu359变体的催化活性及其混合物与相应CYP2C9基因型患者的非结合清除率的比较
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Pharmacogenetics. 1996 Aug;6(4):341-9. doi: 10.1097/00008571-199608000-00007.