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Development and Reliability of a User-Friendly Multicenter Phenotyping Application for Hemorrhagic and Ischemic Stroke.一款针对出血性和缺血性中风的用户友好型多中心表型分析应用程序的开发与可靠性
J Stroke Cerebrovasc Dis. 2017 Nov;26(11):2662-2670. doi: 10.1016/j.jstrokecerebrovasdis.2017.06.042. Epub 2017 Jul 29.
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Interleukin-6 (IL-6) rs1800796 and cyclin dependent kinase inhibitor (CDKN2A/CDKN2B) rs2383207 are associated with ischemic stroke in indigenous West African Men.白细胞介素-6(IL-6)基因rs1800796和细胞周期蛋白依赖性激酶抑制剂(CDKN2A/CDKN2B)基因rs2383207与西非本土男性的缺血性中风有关。
J Neurol Sci. 2017 Aug 15;379:229-235. doi: 10.1016/j.jns.2017.05.046. Epub 2017 May 23.
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Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations.单性状和多性状全基因组关联分析确定了非洲裔人群中血压的新基因座。
PLoS Genet. 2017 May 12;13(5):e1006728. doi: 10.1371/journal.pgen.1006728. eCollection 2017 May.
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DNA Methylation Regulates Gene Expression in Intracranial Aneurysms.DNA甲基化调控颅内动脉瘤中的基因表达。
World Neurosurg. 2017 Sep;105:28-36. doi: 10.1016/j.wneu.2017.04.064. Epub 2017 Apr 19.
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20th Workshop of the International Stroke Genetics Consortium, November 3-4, 2016, Milan, Italy: 2016.036 ISGC research priorities.国际卒中遗传学联盟第20次研讨会,2016年11月3 - 4日,意大利米兰:2016.036 ISGC研究重点
Neurol Genet. 2017 Mar 30;3(1 Suppl 1):S12-S18. doi: 10.1212/NXG.0000000000000136. eCollection 2017 Mar.
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Stroke in Indigenous Africans, African Americans, and European Americans: Interplay of Racial and Geographic Factors.非洲原住民、非裔美国人和欧裔美国人的中风:种族与地理因素的相互作用
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The Importance of Conducting Stroke Genomics Research in African Ancestry Populations.在非洲裔人群中开展中风基因组学研究的重要性。
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Common coding variant in increases the risk for large artery stroke.常见编码变异使大动脉中风风险增加。
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推进转录组大数据科学时代的中风基因组研究:新出现的优先事项和机会。

Advancing stroke genomic research in the age of Trans-Omics big data science: Emerging priorities and opportunities.

机构信息

Center for Genomic and Precision Medicine, College of Medicine, University of Ibadan, Ibadan, Nigeria; Department of Medicine, University of Ibadan, Ibadan, Nigeria.

Center for Translation Research and Implementation Science, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

出版信息

J Neurol Sci. 2017 Nov 15;382:18-28. doi: 10.1016/j.jns.2017.09.021. Epub 2017 Sep 18.

DOI:10.1016/j.jns.2017.09.021
PMID:29111012
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5685670/
Abstract

BACKGROUND

We systematically reviewed the genetic variants associated with stroke in genome-wide association studies (GWAS) and examined the emerging priorities and opportunities for rapidly advancing stroke research in the era of Trans-Omics science.

METHODS

Using the PRISMA guideline, we searched PubMed and NHGRI- EBI GWAS catalog for stroke studies from 2007 till May 2017.

RESULTS

We included 31 studies. The major challenge is that the few validated variants could not account for the full genetic risk of stroke and have not been translated for clinical use. None of the studies included continental Africans. Genomic study of stroke among Africans presents a unique opportunity for the discovery, validation, functional annotation, Trans-Omics study and translation of genomic determinants of stroke with implications for global populations. This is because all humans originated from Africa, a continent with a unique genomic architecture and a distinctive epidemiology of stroke; as well as substantially higher heritability and resolution of fine mapping of stroke genes.

CONCLUSION

Understanding the genomic determinants of stroke and the corresponding molecular mechanisms will revolutionize the development of a new set of precise biomarkers for stroke prediction, diagnosis and prognostic estimates as well as personalized interventions for reducing the global burden of stroke.

摘要

背景

我们系统地回顾了全基因组关联研究(GWAS)中与中风相关的遗传变异,并研究了在 Trans-Omics 科学时代快速推进中风研究的新重点和机遇。

方法

我们使用 PRISMA 指南,在 PubMed 和 NHGRI-EBI GWAS 目录中搜索了 2007 年至 2017 年 5 月期间的中风研究。

结果

我们纳入了 31 项研究。主要的挑战是,少数经过验证的变异并不能说明中风的全部遗传风险,也没有为临床应用所转化。没有一项研究包括非洲大陆的非洲人。对非洲人中的中风进行基因组研究为发现、验证、功能注释、Trans-Omics 研究以及中风基因组决定因素的转化提供了独特的机会,这对全球人口具有重要意义。这是因为所有人类都起源于非洲,非洲是一个具有独特基因组结构和独特中风流行病学的大陆;同时,中风基因的精细定位的遗传率和分辨率也有显著提高。

结论

了解中风的基因组决定因素及其相应的分子机制将彻底改变中风预测、诊断和预后估计以及减少全球中风负担的个性化干预措施的一整套精确生物标志物的发展。