Suppr超能文献

中风基因组学:当前知识、临床应用及未来可能性

Stroke Genomics: Current Knowledge, Clinical Applications and Future Possibilities.

作者信息

Appunni Sandeep, Rubens Muni, Ramamoorthy Venkataraghavan, Saxena Anshul, McGranaghan Peter, Veledar Emir

机构信息

Government Medical College, Kozhikode 673008, India.

Baptist Health South Florida, Miami, FL 33176, USA.

出版信息

Brain Sci. 2022 Feb 23;12(3):302. doi: 10.3390/brainsci12030302.

Abstract

The pathophysiology of stoke involves many complex pathways and risk factors. Though there are several ongoing studies on stroke, treatment options are limited, and the prevalence of stroke is continuing to increase. Understanding the genomic variants and biological pathways associated with stroke could offer novel therapeutic alternatives in terms of drug targets and receptor modulations for newer treatment methods. It is challenging to identify individual causative mutations in a single gene because many alleles are responsible for minor effects. Therefore, multiple factorial analyses using single nucleotide polymorphisms (SNPs) could be used to gain new insight by identifying potential genetic risk factors. There are many studies, such as Genome-Wide Association Studies (GWAS) and Phenome-Wide Association Studies (PheWAS) which have identified numerous independent loci associated with stroke, which could be instrumental in developing newer drug targets and novel therapies. Additionally, using analytical techniques, such as meta-analysis and Mendelian randomization could help in evaluating stroke risk factors and determining treatment priorities. Combining SNPs into polygenic risk scores and lifestyle risk factors could detect stroke risk at a very young age and help in administering preventive interventions.

摘要

中风的病理生理学涉及许多复杂的途径和风险因素。尽管目前有多项关于中风的研究正在进行,但治疗选择有限,且中风的患病率持续上升。了解与中风相关的基因组变异和生物学途径,可能会在药物靶点和受体调节方面为新的治疗方法提供新的治疗选择。识别单个基因中的个体致病突变具有挑战性,因为许多等位基因会产生微小影响。因此,使用单核苷酸多态性(SNP)进行多因素分析,可通过识别潜在的遗传风险因素来获得新的见解。有许多研究,如全基因组关联研究(GWAS)和全表型组关联研究(PheWAS),已经确定了许多与中风相关的独立基因座,这可能有助于开发新的药物靶点和新疗法。此外,使用荟萃分析和孟德尔随机化等分析技术,有助于评估中风风险因素并确定治疗优先级。将SNP纳入多基因风险评分和生活方式风险因素中,可以在非常年轻时检测中风风险,并有助于实施预防干预措施。

相似文献

1
Stroke Genomics: Current Knowledge, Clinical Applications and Future Possibilities.
Brain Sci. 2022 Feb 23;12(3):302. doi: 10.3390/brainsci12030302.
3
Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia.
Cancer Epidemiol Biomarkers Prev. 2020 Aug;29(8):1606-1614. doi: 10.1158/1055-9965.EPI-20-0113. Epub 2020 May 28.
4
Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative.
Am J Hum Genet. 2018 Jun 7;102(6):1048-1061. doi: 10.1016/j.ajhg.2018.04.001. Epub 2018 May 17.
5
Advances in genomic analysis of stroke: what have we learned and where are we headed?
Stroke. 2010 Apr;41(4):825-32. doi: 10.1161/STROKEAHA.109.570523. Epub 2010 Feb 18.
6
Associations of genetically determined iron status across the phenome: A mendelian randomization study.
PLoS Med. 2019 Jun 20;16(6):e1002833. doi: 10.1371/journal.pmed.1002833. eCollection 2019 Jun.
7
Phenome-wide association studies (PheWASs) for functional variants.
Eur J Hum Genet. 2015 Apr;23(4):523-9. doi: 10.1038/ejhg.2014.123. Epub 2014 Jul 30.
9
Novel Drug Targets for Ischemic Stroke Identified Through Mendelian Randomization Analysis of the Blood Proteome.
Circulation. 2019 Sep 9;140(10):819-830. doi: 10.1161/CIRCULATIONAHA.119.040180. Epub 2019 Jun 18.
10
The challenges, advantages and future of phenome-wide association studies.
Immunology. 2014 Feb;141(2):157-65. doi: 10.1111/imm.12195.

引用本文的文献

1
Multidimensional Approach of Genotype and Phenotype in Stroke Etiology: The MAGPIE Study.
Health Sci Rep. 2024 Dec 4;7(12):e70227. doi: 10.1002/hsr2.70227. eCollection 2024 Dec.
2
Systems-level computational modeling in ischemic stroke: from cells to patients.
Front Physiol. 2024 Jul 2;15:1394740. doi: 10.3389/fphys.2024.1394740. eCollection 2024.
3
Polymorphism of , the gene encoding a heat-resistant obscure (Hero) protein with chaperone activity, is a novel link in ischemic stroke.
IBRO Neurosci Rep. 2023 May 10;14:453-461. doi: 10.1016/j.ibneur.2023.05.004. eCollection 2023 Jun.

本文引用的文献

3
Identifying Genetic and Biological Determinants of Race-Ethnic Disparities in Stroke in the United States.
Stroke. 2020 Nov;51(11):3417-3424. doi: 10.1161/STROKEAHA.120.030425. Epub 2020 Oct 26.
4
Effects of Genetic Variants on Stroke Risk.
Stroke. 2020 Mar;51(3):736-741. doi: 10.1161/STROKEAHA.119.024158. Epub 2020 Feb 12.
5
Clinical Variables and Genetic Risk Factors Associated with the Acute Outcome of Ischemic Stroke: A Systematic Review.
J Stroke. 2019 Sep;21(3):276-289. doi: 10.5853/jos.2019.01522. Epub 2019 Sep 30.
6
Long Noncoding RNAs in the Pathophysiology of Ischemic Stroke.
Neuromolecular Med. 2019 Dec;21(4):474-483. doi: 10.1007/s12017-019-08542-w. Epub 2019 May 22.
8
Stroke genetics: discovery, biology, and clinical applications.
Lancet Neurol. 2019 Jun;18(6):587-599. doi: 10.1016/S1474-4422(19)30043-2. Epub 2019 Apr 8.
9
Genome-wide association meta-analysis of functional outcome after ischemic stroke.
Neurology. 2019 Mar 19;92(12):e1271-e1283. doi: 10.1212/WNL.0000000000007138. Epub 2019 Feb 22.
10
Long non-coding RNA MALAT1 regulates angiogenesis following oxygen-glucose deprivation/reoxygenation.
J Cell Mol Med. 2019 Apr;23(4):2970-2983. doi: 10.1111/jcmm.14204. Epub 2019 Feb 19.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验