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遗传多态性与哮喘易感性的关联。

Genetic polymorphisms and associated susceptibility to asthma.

机构信息

Center for Applied Genomics, Abramson Research Center of the Joseph Stokes Jr Research Institute, The Children's Hospital of Philadelphia.

出版信息

Int J Gen Med. 2013 Apr 17;6:253-65. doi: 10.2147/IJGM.S28156. Print 2013.

Abstract

As complex common diseases, asthma and allergic diseases are caused by the interaction of multiple genetic variants with a variety of environmental factors. Candidate-gene studies have examined the involvement of a very large list of genes in asthma and allergy, demonstrating a role for more than 100 loci. These studies have elucidated several themes in the biology and pathogenesis of these diseases. A small number of genes have been associated with asthma or allergy through traditional linkage analyses. The publication of the first asthma-focused genome-wide association (GWA) study in 2007 has been followed by nearly 30 reports of GWA studies targeting asthma, allergy, or associated phenotypes and quantitative traits. GWA studies have confirmed several candidate genes and have identified new, unsuspected, and occasionally uncharacterized genes as asthma susceptibility loci. Issues of results replication persist, complicating interpretation and making conclusions difficult to draw, and much of the heritability of these diseases remains undiscovered. In the coming years studies of complex diseases like asthma and allergy will probably involve the use of high-throughput next-generation sequencing, which will bring a tremendous influx of new information as well as new problems in dealing with vast datasets.

摘要

作为复杂的常见疾病,哮喘和过敏性疾病是由多种遗传变异与多种环境因素相互作用引起的。候选基因研究已经研究了 100 多个基因在哮喘和过敏中的作用,证明了 100 多个基因在哮喘和过敏中的作用。这些研究阐明了这些疾病的生物学和发病机制的几个主题。少数基因通过传统的连锁分析与哮喘或过敏有关。2007 年首次发表的哮喘全基因组关联(GWA)研究之后,几乎有 30 份针对哮喘、过敏或相关表型和数量性状的 GWA 研究报告。GWA 研究证实了一些候选基因,并确定了新的、意想不到的、偶尔未表征的基因作为哮喘易感基因座。结果复制的问题仍然存在,这使得解释变得复杂,使得难以得出结论,这些疾病的大部分遗传仍未被发现。在未来几年,哮喘和过敏等复杂疾病的研究可能会涉及使用高通量的下一代测序,这将带来大量新的信息,以及在处理大量数据集方面的新问题。

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