澳大利亚土著人口的药物基因组景观
Sumudu Rangika Samarasinghe1, Wendy Hoy2, Sudhir Jadhao1
1Centre for Genomics and Personalised Health, Queensland University of Technology, Brisbane, QLD, Australia.
Frontiers in pharmacology
|June 7, 2023
概括
澳大利亚土著人具有显著的药物基因组变异,影响药物代谢. 这项研究强调了对多样化的基因组数据的需求,以改善土著人口的精准医学.
科学领域:
- 基因组学就是基因组学.
- 药物基因组学 药物基因组学
- 个性化医疗是个性化的医疗.
背景情况:
- 来自土著人口的有限基因组数据创建了一个
- 基因组间隙是基因组间隙.
- 阻碍了个性化医疗的获取.
- 澳大利亚原住民面临着高慢性疾病负担,没有足够的基因组和药物安全数据.
研究的目的:
- 描述土著Tiwi人口的药物基因组 (PGx) 景观.
- 确定可操作的PGx变体并评估它们对药物代谢的临床影响.
- 强调在药物基因组学研究中需要多样性.
主要方法:
- 对来自Tiwi土著人口的近500个人进行了药物基因组研究.
- 使用Illumina Novaseq6000技术进行了全基因组测序.
- 分析了测序数据以及药理治疗信息.
主要成果:
- 每个个体至少携带一个可操作的基因型; 77%的人在19个药物基因中至少有三种.
- 41%的Tiwi队列显示CYP2D6代谢受损,明显高于全球平均水平.
- 超过50%的人表现出受损的CYP2C9,CYP2C19和CYP2B6代谢,影响了常见的药物处理.
- 在非常重要的药物基因 (VIPs) 中确定了31种新的可操作变异,其中5种在Tiwi中很常见.
- 对癌症药物,免疫抑制剂和抗病毒药物检测到的临床影响.
结论:
- 药物基因组资料表明,先发性PGx测试对土著Tiwi患者的有用性.
- 研究结果支持为土著人口量身定制的精确治疗策略.
- 强调PGx测试在祖先多样化的群体中的可行性和重要性,倡导增加包容性.
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