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Genetics of Common Polygenic Ischaemic Stroke: Current Understanding and Future Challenges

机译:常见多基因缺血性卒中的遗传学:当前的认识和未来的挑战。

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Stroke is the third commonest cause of death and the major cause of adult neurological disability worldwide. While much is known about conventional risk factors such as hypertension, diabetes and incidence of smoking, these environmental factors only account for a proportion of stroke risk. Up to 50% of stroke risk can be attributed to genetic risk factors, although to date no single risk allele has been convincingly identified as contributing to this risk. Advances in the field of genetics, most notably genome wide association studies (GWAS), have revealed genetic risks in other cardiovascular disease and these techniques are now being applied to ischaemic stroke. This paper covers previous genetic studies in stroke including candidate gene studies, discusses the genome wide association approach, and future techniques such as next generation sequencing and the post-GWAS era. The review also considers the overlap from other cardiovascular diseases and whether findings from these may also be informative in ischaemic stroke.
机译:中风是全球第三大常见死亡原因,也是成人神经系统残疾的主要原因。尽管人们对诸如高血压,糖尿病和吸烟率等常规风险因素了解很多,但这些环境因素仅占中风风险的一部分。尽管迄今为止,尚无令人信服的单一等位基因被令人信服地鉴定为导致这种风险的原因,但高达50%的中风风险可归因于遗传风险因素。遗传学领域的进展,尤其是全基因组关联研究(GWAS),已经揭示了其他心血管疾病的遗传风险,这些技术现已应用于缺血性卒中。本文涵盖了中风以前的遗传研究,包括候选基因研究,讨论了全基因组关联方法,以及下一代测序和GWAS后时代等未来技术。该评价还考虑了其​​他心血管疾病的重叠,以及这些发现是否也有助于缺血性中风。

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