云南省拉祜族人群药物基因组学 VIP 变异体的遗传多态性。

Genetic polymorphisms of pharmacogenomic VIP variants in the Lahu population from Yunnan Province.

机构信息

College of Life Science, Northwest University, Xi'an, Shaanxi 710069, China; Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, Northwest University, Xi'an, Shaanxi 710069, China; Biomedicine Key Laboratory of Shaanxi Province, Northwest University, Xi'an 710069, China.

出版信息

Gene. 2022 Nov 30;844:146825. doi: 10.1016/j.gene.2022.146825. Epub 2022 Aug 19.

DOI:10.1016/j.gene.2022.146825

PMID:35995116

Abstract

BACKGROUND

Pharmacogenomics has been widely used to study the very important pharmacogenetic (VIP) variants among populations, but information on pharmacogenomics in the Lahu population is limited. The purpose of this study was to determine the differences in the distribution of VIP variants between the Lahu and the other 26 populations.

METHODS

We genotyped 55 VIP variants of 27 genes in the Lahu population from the PharmGKB database. χ test was used to compare the genotype and allele frequencies between the Lahu and the other 26 populations from the 1000 Genomes Project.

RESULTS

The genotype and allele frequencies of single nucleotide polymorphisms (SNPs) on rs20417 (PTGS2), rs776746 (CYP3A5), rs2115819 (ALOX5), and rs3093105 (CYP4F2) were considerably different in the Lahu population compared with those in the other 26 populations. Besides, based on the PharmGKB database, we identified several VIP variants that may alter the drug metabolism of aspirin (PTGS2), tacrolimus (CYP3A5), montelukast (ALOX5), and vitamin E (CYP4F2).

CONCLUSION

The results show that there are significant differences in the genotype frequency distribution between the Lahu and the other 26 populations. Our study supplements the pharmacogenomics information of the Lahu population and provides a theoretical basis for individualized medicine in Lahu.

摘要

背景

药物基因组学已被广泛用于研究人群中的重要药物遗传学（VIP）变体，但关于拉祜族人群药物基因组学的信息有限。本研究的目的是确定拉祜族人群与其他 26 个人群之间 VIP 变体分布的差异。

方法

我们从 PharmGKB 数据库中对拉祜族人群中的 27 个基因中的 55 个 VIP 变体进行了基因分型。使用 χ 检验比较了 PharmGKB 数据库中拉祜族人群与来自 1000 基因组计划的其他 26 个人群之间的基因型和等位基因频率。

结果

与其他 26 个人群相比，拉祜族人群中 rs20417（PTGS2）、rs776746（CYP3A5）、rs2115819（ALOX5）和 rs3093105（CYP4F2）上的单核苷酸多态性（SNP）基因型和等位基因频率存在显著差异。此外，根据 PharmGKB 数据库，我们确定了几个可能改变阿司匹林（PTGS2）、他克莫司（CYP3A5）、孟鲁司特（ALOX5）和维生素 E（CYP4F2）药物代谢的 VIP 变体。