在厄瓜多尔人口中CYP2C19的遗传多态性:一种跨民族的方法
Alba Alonso Llorente1,2,3, Josefa Salgado Garrido4,5, Óscar Teijido Hermida6
1Clinical Laboratory Department, Hospital Universitario Arnau de Vilanova, Lleida, Catalunya, Spain.
Heliyon
|April 8, 2024
概括
在厄瓜多尔族群中,CYP2C19*2和CYP2C19*17等位基因的频率并没有显著差异. 这些发现表明厄瓜多人的祖先主要是美洲原住民,影响药物代谢.
科学领域:
- 药物基因组学和人类遗传学
- 人口遗传学 人口遗传学
- 药物代谢研究 药物代谢研究
背景情况:
- CYP2C19基因对于代谢许多药物至关重要,特定的等位基因 (*2, *3, *17) 影响药物的疗效.
- CYP2C19的等位基因频率在全球各族群之间有显著的差异,因此需要针对特定族群的临床应用数据.
- 厄瓜多尔的多元化人口,包括梅斯蒂斯人,非洲裔和美洲原住民,为研究CYP2C19等位基因分布提供了独特的背景.
研究的目的:
- 确定厄瓜多尔不同种族群体中关键CYP2C19等位基因 (*2, *3, *17) 的频率.
- 将这些等位基频率与其他全球人口中报告的等位基频率进行比较.
- 调查厄瓜多尔内CYP2C19等位基分布的潜在种族变异.
主要方法:
- 对CYP2C19*17的基因定型使用嵌套PCR对来自105名非洲裔,75名美洲原住民 (基奇瓦) 和33名梅斯蒂斯人的DNA样本进行.
- 在78名非洲裔,29名美洲原住民和16名混血儿中,使用TaqMan等位基歧视试验评估了CYP2C19*2等位基频率.
- 通过嵌套PCR对33个非洲后裔的DNA进行了CYP2C19*3等位基因分析.
主要成果:
- 替代基因的总频率为CYP2C19*2的14.22%和CYP2C19*17的2.10%.
- 在被研究的厄瓜多尔族裔小组中,没有观察到CYP2C19*2和CYP2C19*17的频率有统计学意义的差异 (p > 0.05).
- 在任何分析的样本中都没有检测到CYP2C19*3等位基因.
结论:
- 在厄瓜多尔,CYP2C19*2和*17等位基频率缺乏显著的民族差异可能归因于高的跨民族混合或潜在的样本选择偏差.
- 观察到的CYP2C19*2的频率与欧洲,非洲,中东和一些美国人群的频率一致.
- 厄瓜多尔CYP2C19*17的低频率与东亚/南亚和美洲土著人群中发现的频率相似,这表明美洲土著人的遗传影响占主导地位.
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