在叙利亚队列中CYP2C9多态的频率
Weam Aldiban1,2, Majd N Aljamali3,4, Lama A Youssef5,6,7
1Department of Pharmaceutics and Pharmaceutical Technology, Program of Clinical and Hospital Pharmacy, Faculty of Pharmacy, Damascus University, Damascus, Syrian Arab Republic.
BMC genomics
|February 13, 2025
概括
细胞染色体P450家族2亚家族C成员9 (CYP2C9) 的遗传变异会影响药物代谢. 这项研究在叙利亚人中发现CYP2C9 *2和 *3等位基因的高频率,表明需要药物遗传实施.
科学领域:
- 药物遗传学 药物遗传学
- 遗传学 是一个遗传学.
- 药物新陈代谢 药物新陈代谢
背景情况:
- 细胞染色体P450家族2亚家族C成员9 (CYP2C9) 呈现出显著的遗传变异性,影响药物代谢.
- 了解CYP2C9变异频率对于个性化医学和药物遗传学至关重要.
- 关于中东地区人群中CYP2C9遗传多样性的数据有限.
研究的目的:
- 为了确定叙利亚人口中CYP2C9变体的频率.
- 评估特定CYP2C9等位基因的流行程度,包括*2和*3.
- 为中东地区CYP2C9遗传变异性提供数据.
主要方法:
- 一项涉及138名来自大马士革和霍姆斯的非相关的叙利亚个人的横截面研究.
- 从外围血液中提取基因组DNA.
- 通过PCR放大和测序,检测出24种异源和2种内源CYP2C9变异.
主要成果:
- 检测到CYP2C9*2和*3等位基因的频率分别为14.8%和8.3%.
- 43.5%的受试者携带至少一种功能失调的CYP2C9变体.
- 在内部rs933119和*2等位基因 (rs1799853) 之间观察到高度的链接不平衡.
结论:
- 叙利亚人表现出CYP2C9 * 2和 * 3等位基因的高流行率,这表明中等和差代谢者的比例很高.
- 发现了罕见的变种*41和*46,需要进一步调查.
- 这些发现支持在叙利亚人身上实施CYP2C9药物遗传学以进行个性化药物治疗.
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