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本文引用的文献

1
Airway microbiota and bronchial hyperresponsiveness in patients with suboptimally controlled asthma.气道微生物组与支气管高反应性在哮喘控制不佳患者中的研究。
J Allergy Clin Immunol. 2011 Feb;127(2):372-381.e1-3. doi: 10.1016/j.jaci.2010.10.048. Epub 2010 Dec 30.
2
Chromosome 4q31 locus in COPD is also associated with lung cancer.COPD 相关的 4q31 染色体位点也与肺癌相关。
Eur Respir J. 2010 Dec;36(6):1375-82. doi: 10.1183/09031936.00033310.
3
A large-scale, consortium-based genomewide association study of asthma.一项基于大型联盟的哮喘全基因组关联研究。
N Engl J Med. 2010 Sep 23;363(13):1211-1221. doi: 10.1056/NEJMoa0906312.
4
Loci identified by genome-wide association studies influence different disease-related phenotypes in chronic obstructive pulmonary disease.全基因组关联研究确定的基因座影响慢性阻塞性肺疾病不同的与疾病相关的表型。
Am J Respir Crit Care Med. 2010 Dec 15;182(12):1498-505. doi: 10.1164/rccm.201002-0151OC. Epub 2010 Jul 23.
5
Genomewide association studies and assessment of the risk of disease.全基因组关联研究与疾病风险评估
N Engl J Med. 2010 Jul 8;363(2):166-76. doi: 10.1056/NEJMra0905980.
6
A study of the influence of sex on genome wide methylation.一项关于性别对全基因组甲基化影响的研究。
PLoS One. 2010 Apr 6;5(4):e10028. doi: 10.1371/journal.pone.0010028.
7
Variants in FAM13A are associated with chronic obstructive pulmonary disease.FAM13A 中的变异与慢性阻塞性肺疾病有关。
Nat Genet. 2010 Mar;42(3):200-2. doi: 10.1038/ng.535. Epub 2010 Feb 21.
8
Disordered microbial communities in asthmatic airways.哮喘气道中的失调微生物群落。
PLoS One. 2010 Jan 5;5(1):e8578. doi: 10.1371/journal.pone.0008578.
9
Exome sequencing makes medical genomics a reality.外显子组测序使医学基因组学成为现实。
Nat Genet. 2010 Jan;42(1):13-4. doi: 10.1038/ng0110-13.
10
Genetic variants associated with Lp(a) lipoprotein level and coronary disease.与脂蛋白(a)水平和冠心病相关的遗传变异。
N Engl J Med. 2009 Dec 24;361(26):2518-28. doi: 10.1056/NEJMoa0902604.

复杂气道疾病的遗传学。

Genetics of complex airway disease.

机构信息

National Heart and Lung Institute, London SW3 6LY, UK.

出版信息

Proc Am Thorac Soc. 2011 May;8(2):149-53. doi: 10.1513/pats.201101-003MS.

DOI:10.1513/pats.201101-003MS
PMID:21543792
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3131831/
Abstract

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.

摘要

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。