遗传变异支持氨酸在预防缺血性中风中的因果作用
Ernst Mayerhofer1,2,3, Livia Parodi1,2,3,4, Kaavya Narasimhalu1,2,3
1Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
概括
瓦尔酸盐的使用,由遗传反应预测,可能会降低缺血性中风风险. 这项研究提供了对酸的因果关系证据.
科学领域:
- 药物基因组学 药物基因组学
- 神经学 神经学
- 心血管研究研究心血管研究
背景情况:
- 瓦尔酸盐表现出抗动脉样硬化性质,这表明它有可能预防缺血性中风.
- 观察性研究将氨酸使用与降低中风风险联系起来,但根据指示混限制因果推断.
研究的目的:
- 使用孟德尔随机化研究影响氨酸发作反应和缺血性中风风险的遗传变异之间的因果关系.
- 为了确定对氨酸反应的遗传分数是否与缺血性中风发生率和复发有关.
主要方法:
- 从全基因组关联数据中获得了对氨酸反应的遗传分数.
- 测试了这种遗传分数与缺血性中风的关联,在英国生物银行和大众普利格姆生物银行的瓦尔酸盐用户中进行了测试.
- 采用了考克斯的比例危险模型,并根据相关的共变量进行了调整.
主要成果:
- 较高的氨酸反应遗传分数与血清氨酸水平的增加相关.
- 基因预测有利的氨酸反应与降低缺血性中风风险 (HR 0.73 per SD) 和复发性中风风险 (HR 0.53 per SD) 相关.
- 在氨酸非使用者中,遗传分数和缺血性中风之间没有观察到任何关联,这表明微小的质性.
结论:
- 基因预测对氨酸的有利发作反应与氨酸使用者的缺血性中风风险降低有因果关系.
- 酸在预防中风和治疗中风后方面可能具有双重益处.
- 需要进行进一步的临床试验,以确定最佳的患者群体,以预防基于酸的中风.
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