National Heart and Lung Institute, London SW3 6LY, UK.
Proc Am Thorac Soc. 2011 May;8(2):149-53. doi: 10.1513/pats.201101-003MS.
The past 3 years have seen highly significant genetic effects identified for a wide variety of common complex diseases, including the airway disorders of asthma and chronic obstructive pulmonary disease. It appears that only a portion of the genetically mediated susceptibility to complex diseases has been identified, and there is much left to be discovered. This review briefly describes the results of the genome-wide association studies of asthma and gives an overview of the parallel and increasingly large-scale studies that are taking place with chronic obstructive pulmonary disease. The future impact is discussed of technological advances that allow increasingly large-scale gene expression studies, next-generation sequencing, and genome-wide testing for epigenetic effects. The use of genetic technology to examine the airway microbiota that interact with the mucosa in health and disease is described.
过去 3 年中,已发现多种常见复杂疾病(包括哮喘和慢性阻塞性肺疾病等气道疾病)存在显著的遗传效应。似乎只有一部分复杂疾病的遗传易感性已被确定,还有很多有待发现。本综述简要描述了哮喘全基因组关联研究的结果,并概述了正在进行的慢性阻塞性肺疾病的平行且规模越来越大的研究。讨论了技术进步对未来的影响,这些技术进步使大规模基因表达研究、下一代测序和全基因组检测表观遗传效应成为可能。还描述了利用遗传技术来研究与健康和疾病中的黏膜相互作用的气道微生物群。