与临床相关的 CYP2C83 和 CYP2C92 单倍型是从尼安德特人那里遗传的

IF 2.9 3区医学 Q2 GENETICS & HEREDITY Pharmacogenomics Journal Pub Date : 2022-07-02 DOI:10.1038/s41397-022-00284-6

Sigrid Haeggström, Magnus Ingelman-Sundberg, Svante Pääbo, Hugo Zeberg

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引用次数: 2

摘要

编码细胞色素 P450 酶基因的遗传变异会影响药物和内源性化合物的代谢。10 号染色体上含有细胞色素基因 CYP2C8 和 CYP2C9 的基因座显示出 CYP2C8*3 和 CYP2C9*2 等位基因之间的连锁不平衡，形成了约 300 千碱基的单倍型。这种单倍型与几种药物的代谢改变有关，最明显的是华法林和苯妥英的代谢降低，导致药物在达到治疗剂量时产生毒性。在这里，我们证明这种单倍型是从尼安德特人那里遗传下来的。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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The clinically relevant CYP2C8*3 and CYP2C9*2 haplotype is inherited from Neandertals

Genetic variation in genes encoding cytochrome P450 enzymes influences the metabolism of drugs and endogenous compounds. The locus containing the cytochrome genes CYP2C8 and CYP2C9 on chromosome 10 exhibits linkage disequilibrium between the CYP2C8*3 and CYP2C9*2 alleles, forming a haplotype of ~300 kilobases. This haplotype is associated with altered metabolism of several drugs, most notably reduced metabolism of warfarin and phenytoin, leading to toxicity at otherwise therapeutic doses. Here we show that this haplotype is inherited from Neandertals.

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来源期刊

Pharmacogenomics Journal 医学-药学

CiteScore

7.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： The Pharmacogenomics Journal is a print and electronic journal, which is dedicated to the rapid publication of original research on pharmacogenomics and its clinical applications. Key areas of coverage include: Personalized medicine Effects of genetic variability on drug toxicity and efficacy Identification and functional characterization of polymorphisms relevant to drug action Pharmacodynamic and pharmacokinetic variations and drug efficacy Integration of new developments in the genome project and proteomics into clinical medicine, pharmacology, and therapeutics Clinical applications of genomic science Identification of novel genomic targets for drug development Potential benefits of pharmacogenomics.