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哮喘的遗传学和基因组学。

The Genetics and Genomics of Asthma.

机构信息

National Heart and Lung Institute, Imperial College London, London SW7 2AZ, United Kingdom; email:

出版信息

Annu Rev Genomics Hum Genet. 2018 Aug 31;19:223-246. doi: 10.1146/annurev-genom-083117-021651.

Abstract

Asthma is a common, clinically heterogeneous disease with strong evidence of heritability. Progress in defining the genetic underpinnings of asthma, however, has been slow and hampered by issues of inconsistency. Recent advances in the tools available for analysis-assaying transcription, sequence variation, and epigenetic marks on a genome-wide scale-have substantially altered this landscape. Applications of such approaches are consistent with heterogeneity at the level of causation and specify patterns of commonality with a wide range of alternative disease traits. Looking beyond the individual as the unit of study, advances in technology have also fostered comprehensive analysis of the human microbiome and its varied roles in health and disease. In this article, we consider the implications of these technological advances for our current understanding of the genetics and genomics of asthma.

摘要

哮喘是一种常见的、临床表现异质性很强的疾病,具有很强的遗传性证据。然而,在确定哮喘的遗传基础方面,进展一直很缓慢,并受到不一致性问题的阻碍。目前用于分析——检测全基因组转录、序列变异和表观遗传标记——的工具的最新进展,极大地改变了这一局面。这些方法的应用与病因水平的异质性一致,并确定了与广泛的替代疾病特征的常见模式。超越个体作为研究单位,技术的进步也促进了人类微生物组的全面分析及其在健康和疾病中的各种作用。在本文中,我们考虑了这些技术进步对我们目前对哮喘遗传学和基因组学的理解的影响。

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