泰国人口中多态的多样性:对精准医学的影响
Vorthunju Nakhonsri1, Shobana John2,3, Hathaichanok Panumasmontol4,5
1National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency, Pathum Thani, Thailand.
The application of clinical genetics
|July 8, 2024
概括
CYP2C19*2和*3基因变异在泰国人群中很常见,影响药物代谢和心血管健康. 了解这些种族特异性变异对于个性化医疗方法至关重要.
科学领域:
- 药物基因组学 药物基因组学
- 人类遗传学 人类遗传学
- 药物新陈代谢 药物新陈代谢
背景情况:
- CYP2C19对于代谢许多药物至关重要,常见的变体如CYP2C19*2和*3会影响克洛皮多格雷尔的疗效,并导致心血管不良事件.
- 基因多态性CYP2C19的患病率在各族群之间有显著差异,因此需要特定人群的数据来准确的临床应用.
研究的目的:
- 为了确定泰国人口中CYP2C19*2和*3遗传多态度的频率.
- 将这些频率与其他全球人口报告的频率进行比较.
主要方法:
- 使用实时聚合酶链反应对CYP2C19*2 (rs4244285) 和CYP2C19*3 (rs4986893) 的基因定型.
- 研究包括211名与泰国人无关的健康个体.
主要成果:
- 在泰国人中,CYP2C19*1等位基因最常见 (70.14%),其中CYP2C19*2为25.36%,CYP2C19*3为4.50%.
- 在高加索,西班牙裔,非洲,意大利,马其顿,坦桑尼亚和北印度人群中,CYP2C19*3等位基因不存在.
- 泰国中等和低代谢者 (IMs和PMs) 是普遍存在的,具有 *1/*2, *1/*3, *2/*2,和 *2/*3.的基因型的显著比例.
结论:
- 泰国人群中的CYP2C19遗传变异与其他族群相比显示出不同的频率.
- 这些CYP2C19基因型和表型的种族特异性变异对于开发用于精准医学的药物基因组生物标志物很重要.
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