神经科学全基因组关联研究。
Genome-wide association studies in neurology.
机构信息
1 College of Medicine and Pharmaceutics, Ocean University of China, Qingdao 266071, China ; 2 Department of Neurology, Qingdao Municipal Hospital, Nanjing Medical University, Qingdao 266071, China ; 3 Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao 266071, China.
出版信息
Ann Transl Med. 2014 Dec;2(12):124. doi: 10.3978/j.issn.2305-5839.2014.11.12.
Abstract
Genome-wide association studies (GWAS) are a powerful tool for understanding the genetic underpinnings of human disease. In this article, we briefly review the role and findings of GWAS in common neurological diseases, including Stroke, Alzheimer's disease, Parkinson's disease, epilepsy, multiple sclerosis, migraine, amyotrophic lateral sclerosis, frontotemporal lobar degeneration, restless legs syndrome, intracranial aneurysm, human prion diseases and moyamoya disease. We then discuss the present and future implications of these findings with regards to disease prediction, uncovering basic biology, and the development of potential therapeutic agents.
摘要
全基因组关联研究（GWAS）是理解人类疾病遗传基础的有力工具。本文简要回顾了 GWAS 在常见神经疾病中的作用和发现，包括中风、阿尔茨海默病、帕金森病、癫痫、多发性硬化症、偏头痛、肌萎缩侧索硬化症、额颞叶痴呆、不宁腿综合征、颅内动脉瘤、人类朊病毒病和烟雾病。然后，我们讨论了这些发现对疾病预测、揭示基础生物学和开发潜在治疗药物的当前和未来意义。
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1
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Eur J Neurol. 2013 May;20(5):765-72. doi: 10.1111/ene.12055. Epub 2013 Jan 7.
2
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3
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Mol Biol Rep. 2013 Mar;40(3):2557-64. doi: 10.1007/s11033-012-2341-1. Epub 2012 Dec 14.
4
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