健康波兰新生儿常见 CYP3A5 基因变异体的频率。

Frequency of common CYP3A5 gene variants in healthy Polish newborn infants.

机构信息

Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Powstańców Wlkp. 72, PL 70-111 Szczecin, Poland.

出版信息

Pharmacol Rep. 2009 Sep-Oct;61(5):947-51. doi: 10.1016/s1734-1140(09)70154-9.

DOI:10.1016/s1734-1140(09)70154-9

PMID:19904021

Abstract

Cytochrome P450 monooxygenases catalyze the metabolism of approximately 40-60% of widely used drugs with a A6986G CYP3A5 polymorphism determining expresser (A6986, *1) and reduced- expresser (*3) variants with modified drug metabolism activity. In this report, the allele frequency of CYP3A5 *1 and 3 (A6986 or G6986, respectively) was analyzed by the PCR-RFLP technique in a cohort of 200 Polish newborns from the West Pomeranian region. Of the studied group, 1% (n = 2/200) proved homozygous for the CYP3A51 allele, 89% (n = 178/200) for the *3 allele, and 10% (n = 20/200) were heterozygous for *1/*3. Similar frequencies were found in other Caucasian European populations. This study provides basic genetic data related to the metabolism of drugs, with a narrow therapeutic window in a Polish population.

摘要

细胞色素 P450 单加氧酶催化大约 40-60%的广泛使用药物的代谢，CYP3A5 多态性 A6986G 决定表达者（A6986，1）和降低表达者（3），其药物代谢活性发生改变。在本报告中，通过 PCR-RFLP 技术分析了来自西波美拉尼亚地区的 200 名波兰新生儿队列中 CYP3A51 和3（分别为 A6986 或 G6986）等位基因的频率。在研究组中，1%（n = 2/200）为 CYP3A51 等位基因纯合子，89%（n = 178/200）为3 等位基因，10%（n = 20/200）为*1/*3 杂合子。在其他白种欧洲人群中也发现了类似的频率。本研究提供了与波兰人群中治疗窗较窄的药物代谢相关的基本遗传数据。