遗传变异与早发缺血性脑卒中高易感性相关。

IF 2.1 4区 医学 Q3 PERIPHERAL VASCULAR DISEASE
Journal of the Renin-Angiotensin-Aldosterone System Pub Date : 2023-11-16 eCollection Date: 2023-01-01 DOI:10.1155/2023/9002021
Irma Isordia-Salas, David Santiago-Germán, Rosa María Jiménez-Alvarado, Alfredo Leaños-Miranda
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引用次数: 0

摘要

背景:几种多态性与缺血性卒中风险增加有关,但结果尚无定论。本研究的目的是研究AGTR1 A1166C和TSP-1 N700S多态性与墨西哥年轻人群缺血性卒中之间的关系。方法:采用病例对照研究,纳入250例年龄≤45岁的缺血性脑卒中患者和250例年龄、性别匹配的对照组。通过聚合酶链反应测定所有参与者的多态性。结果:AGTR1 A1166C多态性基因型分布(p = 0.01)和等位基因频率(p = 0.001)差异有统计学意义。TSP1 N700S遗传变异的基因型分布(p = 0.96)和等位基因频率(p = 0.76)组间比较接近。高血压(p = 0.03)、吸烟(p = 0.02)和动脉粥样硬化血栓性疾病家族史(p = 0.04)与中风相关,但与糖尿病(p = 0.30)和血脂异常(p = 0.08)无关。结论:这是首次在墨西哥人群中研究年轻缺血性卒中患者的几种遗传变异。我们的研究结果表明,肾素-血管紧张素-醛固酮系统的多态性可能导致过早高血压、内皮功能障碍、动脉粥样硬化血栓形成、血管收缩、平滑肌细胞迁移和增殖。相反,凝血因子的多态性与缺血性脑卒中无关。环境因素如糖尿病和血脂异常在年轻时缺血性中风的发病机制中可能不太重要。我们建议这些多态性应该在有血栓家族史的个体中确定,以避免卒中的发展。因此,基因型-环境组合可以决定生命中不同时刻的几种可能的表型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Genetic Variants Associated with High Susceptibility of Premature Ischemic Stroke.

Background: Several polymorphisms had been associated with an increased risk of ischemic stroke, but results are inconclusive. The aim of this study was to examine the association between AGTR1 A1166C and TSP-1 N700S polymorphisms and ischemic stroke in a young Mexican population.

Methods: In a case-control study, 250 patients ≤ 45 years of age with ischemic stroke and 250 controls matched by age and gender were included. The polymorphisms were determined in all participants by polymerase chain reaction.

Results: There were statistical differences in genotype distribution (p = 0.01) and allele frequency (p = 0.001) of AGTR1 A1166C polymorphism. In contrast, there was a similar genotype distribution (p = 0.96) and allele frequency (p = 0.76) of the TSP1 N700S genetic variant between groups. Hypertension (p = 0.03), smoking (p = 0.02), and family history of atherothrombotic disease (p = 0.04) were associated with stroke, but not diabetes (p = 0.30) and dyslipidemia (p = 0.08).

Conclusions: This is the first study in Mexican population to explore several genetic variants in young patients with ischemic stroke. Our results suggest that polymorphisms in the renin-angiotensin-aldosterone system could contribute to premature hypertension, endothelial dysfunction, atherothrombosis, vasoconstriction, smooth muscle cell migration, and proliferation. In contrast, polymorphisms in the coagulation factors are not associated with ischemic stroke. Environmental factors such as diabetes and dyslipidemia could be less important in the pathogenesis of ischemic stroke at a young age. We suggest that those polymorphisms should be determined in individuals with a family history of thrombosis to avoid the stroke development. Therefore, genotype-environmental combination could determine several possible phenotypes at different moments in life.

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来源期刊
CiteScore
6.20
自引率
0.00%
发文量
16
审稿时长
6-12 weeks
期刊介绍: JRAAS is a peer-reviewed, open access journal, serving as a resource for biomedical professionals, primarily with an active interest in the renin-angiotensin-aldosterone system in humans and other mammals. It publishes original research and reviews on the normal and abnormal function of this system and its pharmacology and therapeutics, mostly in a cardiovascular context but including research in all areas where this system is present, including the brain, lungs and gastro-intestinal tract.
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