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细胞色素P4503A基因多态性在原发性高血压儿童中的分布特征及与氨氯地平疗效的关系

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摘要 目的分析细胞色素P450(CYP)3A4(CYP3A4)和CYP3A5基因多态性在原发性高血压儿童中的分布特征,初步探讨该遗传多态性对氨氯地平治疗儿童原发性高血压效果的影响。方法选取2022年3月至2023年6月在首都儿科研究所附属儿童医院诊断为原发性高血压的患儿218例,其中接受氨氯地平单药降压治疗的118例,根据治疗4周后是否达到目标血压分为达标组和非达标组。采用聚合酶链式反应-限制性核酸内切法检测CYP3A4*1G和CYP3A5*3基因型,并比较分析两组基因型和等位基因频率的分布特征。结果218例原发性高血压儿童CYP3A4*1G A等位基因突变频率为25.9%,CYP3A5*3 G等位基因突变频率为70.0%,以上等位基因频率与北京地区汉族人群和中国健康汉族人群基本一致。118例原发性高血压儿童应用氨氯地平降压达标率为47.5%。达标组CYP3A4*1G GG基因型(64.3%比41.9%,χ^(2)=5.894,P=0.015)及G等位基因频率(80.4%比66.1%,χ^(2)=6.028,P=0.014)高于非达标组,两组间CYP3A5*3基因型分布频率差异无统计学意义(P>0.05)。CYP3A4*1G GG基因型组降压达标率高于AA+GA组(58.1%比35.7%,χ^(2)=5.894,P=0.015),而CYP3A5*3 AA+AG与GG基因型组降压疗效的差异无统计学意义(P>0.05)。校正混杂因素后,多因素logistic回归分析显示,CYP3A4*1G GG基因型与氨氯地平疗效呈正相关(OR=2.36,95%CI 1.10~5.06,P=0.028)。结论CYP3A4*1G和CYP3A5*3基因多态性在原发性高血压儿童中的分布不具有特异性。CYP3A4*1G GG基因型与氨氯地平降压效果独立相关,而CYP3A5*3基因多态性与氨氯地平疗效并无相关性。
出处 《中华高血压杂志(中英文)》 CSCD 北大核心 2024年第12期1174-1179,共6页 Chinese Journal of Hypertension
基金 北京市科学技术委员会首都临床诊疗技术研究及转化应用(Z211100002921035) 首都卫生发展科研专项(首发2022-3-2105)。
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