Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma.

Using single nucleotide polymorphisms as a means to understanding the pathophysiology of asthma.
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DOI:
10.1186/rr45
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发表时间:
2001
影响因子:
5.8
通讯作者:
Cookson WO
Cookson WO
中科院分区:
医学2区
文献类型:
--
作者:
Palmer LJ;Cookson WO

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哮喘是发达国家最常见的慢性儿童疾病,是一种复杂的疾病,具有很高的社会和经济成本。哮喘遗传病因学的研究提供了一种提高我们对其发病机制的理解的方法,目的是改进预防策略、诊断工具和治疗方法。人们花费了大量的精力和费用试图检测与哮喘易感性有关的遗传位点的特异性多态性。与此同时,检测单核苷酸多态性(SNP)的技术得到了快速发展,构建了广泛的基因组SNP目录,SNP越来越多地用作研究复杂人类疾病遗传病因的方法。本文综述了SNPs对我们理解哮喘病理生理学的当前和潜在贡献。
Asthma is the most common chronic childhood disease in the developed nations, and is a complex disease that has high social and economic costs. Studies of the genetic etiology of asthma offer a way of improving our understanding of its pathogenesis, with the goal of improving preventive strategies, diagnostic tools, and therapies. Considerable effort and expense have been expended in attempts to detect specific polymorphisms in genetic loci contributing to asthma susceptibility. Concomitantly, the technology for detecting single nucleotide polymorphisms (SNPs) has undergone rapid development, extensive catalogues of SNPs across the genome have been constructed, and SNPs have been increasingly used as a method of investigating the genetic etiology of complex human diseases. This paper reviews both current and potential future contributions of SNPs to our understanding of asthma pathophysiology.
DOI: 10.1016/s0140-6736(97)07302-9
发表时间: 1998-04-25
期刊: LANCET
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