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解码中风病因:遗传机制与临床意义的多组学进展

Decoding Stroke Etiology: Multi-Omics Advancements in Genetic Mechanisms and Clinical Implication.

作者信息

Xiao Renxia, Zang Mengxiao, Liu Xiaofeng, Zhu Qingqing, Fu Xiaojing

机构信息

School of Nursing, Shandong Second Medical University, Weifang, Shandong, China.

Weifang People's Hospital, Shandong Second Medical University, Weifang, Shandong, China.

出版信息

Brain Behav. 2025 Sep;15(9):e70792. doi: 10.1002/brb3.70792.

DOI:10.1002/brb3.70792
PMID:40891074
Abstract

PURPOSE

Stroke has a high mortality and disability rate, yet its underlying mechanisms remain not fully understood. The occurrence of stroke is influenced by a combination of environmental factors, genetic factors, and their interaction, making its pathophysiology very intricate.

FINDING

With the development of genetic technology, researchers are endeavoring to explore the genetic risks of stroke from various perspectives, including genomics, transcriptomics, proteomics, and epigenetics, beyond common risk factors such as hypertension, diabetes, and heart disease.

CONCLUSION

These studies have produced significant findings, identifying numerous risk genes, rare variants, copy number variations, and epigenetic characteristics associated with stroke, and enhancing our understanding of stroke occurrence, progression, and prognosis, and holding great promise for advancing personalized medicine with clinical stratification and risk prediction.

摘要

目的

中风具有较高的死亡率和致残率,但其潜在机制仍未完全明确。中风的发生受环境因素、遗传因素及其相互作用的综合影响,其病理生理学非常复杂。

研究结果

随着基因技术的发展,研究人员正努力从多个角度探索中风的遗传风险,包括基因组学、转录组学、蛋白质组学和表观遗传学,而不仅仅局限于高血压、糖尿病和心脏病等常见风险因素。

结论

这些研究取得了重大发现,识别出了众多与中风相关的风险基因、罕见变异、拷贝数变异和表观遗传特征,加深了我们对中风发生、发展和预后的理解,并为通过临床分层和风险预测推进个性化医疗带来了巨大希望。

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The associations of candidate gene polymorphisms with aspirin resistance in patients with ischemic disease: a meta-analysis.缺血性疾病患者中候选基因多态性与阿司匹林抵抗的关联:一项荟萃分析。
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Mendelian Randomization and Bayesian Colocalization Analysis Implicate Glycoprotein VI as a Potential Drug Target for Cardioembolic Stroke in South Asian Populations.孟德尔随机化和贝叶斯共定位分析提示糖蛋白 VI 可能成为南亚人群心源性栓塞性卒中的潜在药物靶点。
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Joint impact of polygenic risk score and lifestyles on early- and late-onset cardiovascular diseases.
多基因风险评分与生活方式对早发和晚发心血管疾病的联合影响。
Nat Hum Behav. 2024 Sep;8(9):1810-1818. doi: 10.1038/s41562-024-01923-7. Epub 2024 Jul 10.
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Effect of PEAR1, PTGS1 gene polymorphisms on the recurrence of aspirin-treated patients with ischemic stroke in the Han population of China: A 4-year follow-up study.PEAR1、PTGS1 基因多态性对中国汉族阿司匹林治疗缺血性脑卒中患者复发的影响:一项 4 年随访研究。
Medicine (Baltimore). 2024 May 10;103(19):e38031. doi: 10.1097/MD.0000000000038031.
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Association of Rare Variants With Prevalent and Incident Stroke and Dementia in the General Population.普通人群中罕见变异与中风和痴呆症患病率及发病率的关联。
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Novel functional insights into ischemic stroke biology provided by the first genome-wide association study of stroke in indigenous Africans.非洲原住民首次全基因组卒中关联研究为缺血性卒中生物学带来的新功能见解。
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Antiplatelet Agent Use After Stroke due to Intracerebral Hemorrhage.脑出血后脑卒中的抗血小板药物应用。
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Novel insight into the etiology of ischemic stroke gained by integrative multiome-wide association study.通过综合多组学全基因组关联研究获得对缺血性中风病因的新认识。
Hum Mol Genet. 2024 Jan 7;33(2):170-181. doi: 10.1093/hmg/ddad174.
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Long Noncoding Rna GAS5 And Mir-137 And Two Of Their Genetic Polymorphisms Contribute To Acute Ischaemic Stroke Risk In An Egyptian Population.长链非编码 RNA GAS5、miR-137 及其两种遗传多态性与埃及人群急性缺血性脑卒中风险的相关性研究。
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Epigenome-wide association study identifies novel genes associated with ischemic stroke.全基因组关联研究鉴定出与缺血性脑卒中相关的新基因。
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