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在大型回顾性研究中,CYP2D6结构变异的患病率

Samantha Frear¹, Ashley Sherman, Don Rule

¹Translational Software, Inc. Mercer Island, Washington, USA.

Pharmacogenetics and genomics

|February 19, 2024

概括

评估CYP2D6基因变异需要的不仅仅是外9分析. 结构变异,包括CYP2D7::CYP2D6转换,影响药物基因组表型分类和临床建议.

科学领域:

药物基因组学药物基因组学
临床遗传学临床遗传学
分子诊断学分子诊断

背景情况:

CYP2D6基因变异显著影响药物代谢和临床结果.
目前的药物基因组测试通常依赖于单位测定 (例如,对CYP2D6的外因子9),这可能会错过关键的结构变异.
CYP2D7::CYP2D6转换可能导致不准确的CYP2D6表型赋值.

研究的目的:

为了确定CYP2D6结构变化的频率,使用多重副本数变化 (CNV) 测试位置.
量化这些变异对临床表型分类的影响.
要突出单位CNV分析对CYP2D6.6的局限性.

主要方法:

来自106,474个样本的非识别的药物基因组学数据的回顾性分析.
利用了来自第9个外体和至少一个额外位置的CYP2D6 CNV数据 (5'UTR,外体1,内体2,外体5或内体6).
根据PharmVar命名法对CYP2D7::CYP2D6和CYP2D6::CYP2D7转化进行分类,副本限制为四个.

主要成果:

在2.44%的样本中发现了CYP2D7::CYP2D6转换.
在5.84%的样本中存在CYP2D6::CYP2D7转换.
基因缺失发生在0.15%的样本中,重复/复制发生在5.98%的样本中.

结论:

测试CYP2D6的多个CNV位点对于准确的遗传评估至关重要.
超过2%的患者表现出CYP2D7::CYP2D6转换,可能导致错误分类的表型.
不准确的表型分类可能导致不一致的临床建议,强调需要进行全面的CYP2D6结构变异分析.

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