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本文引用的文献

1
Effect of five genetic variants associated with lung function on the risk of chronic obstructive lung disease, and their joint effects on lung function.五种与肺功能相关的遗传变异对慢性阻塞性肺病风险的影响,及其对肺功能的联合影响。
Am J Respir Crit Care Med. 2011 Oct 1;184(7):786-95. doi: 10.1164/rccm.201102-0192OC.
2
The association of genome-wide significant spirometric loci with chronic obstructive pulmonary disease susceptibility.全基因组显著的肺功能指标与慢性阻塞性肺疾病易感性的关联。
Am J Respir Cell Mol Biol. 2011 Dec;45(6):1147-53. doi: 10.1165/rcmb.2011-0055OC. Epub 2011 Jun 9.
3
Epigenetic control of gene expression in the lung.肺中基因表达的表观遗传控制。
Am J Respir Crit Care Med. 2011 May 15;183(10):1295-301. doi: 10.1164/rccm.201010-1579PP.
4
Genetics of complex airway disease.复杂气道疾病的遗传学。
Proc Am Thorac Soc. 2011 May;8(2):149-53. doi: 10.1513/pats.201101-003MS.
5
Importance of hedgehog interacting protein and other lung function genes in asthma. hedgehog 相互作用蛋白及其他肺功能基因在哮喘中的重要性。
J Allergy Clin Immunol. 2011 Jun;127(6):1457-65. doi: 10.1016/j.jaci.2011.01.056. Epub 2011 Mar 12.
6
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.
7
Genome-wide association analysis of body mass in chronic obstructive pulmonary disease.慢性阻塞性肺疾病患者体重的全基因组关联分析。
Am J Respir Cell Mol Biol. 2011 Aug;45(2):304-10. doi: 10.1165/rcmb.2010-0294OC. Epub 2010 Oct 29.
8
Oxidation of Z α1-antitrypsin by cigarette smoke induces polymerization: a novel mechanism of early-onset emphysema.香烟烟雾引发 Z α1-抗胰蛋白酶氧化导致聚合:早发性肺气肿的新机制。
Am J Respir Cell Mol Biol. 2011 Aug;45(2):261-9. doi: 10.1165/rcmb.2010-0328OC. Epub 2010 Oct 22.
9
Generation of transgene-free lung disease-specific human induced pluripotent stem cells using a single excisable lentiviral stem cell cassette.使用单可切除慢病毒干细胞盒生成无转基因肺疾病特异性人诱导多能干细胞。
Stem Cells. 2010 Oct;28(10):1728-40. doi: 10.1002/stem.495.
10
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.外显子组测序鉴定出 MLL2 突变是歌舞伎综合征的一个病因。
Nat Genet. 2010 Sep;42(9):790-3. doi: 10.1038/ng.646. Epub 2010 Aug 15.

基因与慢性阻塞性肺疾病。

Genes and chronic obstructive pulmonary disease.

机构信息

Division of Pulmonary and Critical Care Medicine, Department of Medicine, Morehouse School of Medicine, Atlanta, GA 30310-1495, USA.

出版信息

Med Clin North Am. 2012 Jul;96(4):699-711. doi: 10.1016/j.mcna.2012.02.006. Epub 2012 Mar 6.

DOI:10.1016/j.mcna.2012.02.006
PMID:22793939
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3399759/
Abstract

Although much remains to be done, recent advances and the advent of new methodologies are promising and should yield increased understanding of the genetic and epigenetic mechanisms influencing the pathogenesis of COPD, both related and unrelated to severe AAT deficiency. Such understanding should ultimately be translated into novel approaches to prevent, diagnose, and treat COPD.

摘要

尽管仍有许多工作要做,但最近的进展和新方法的出现是有希望的,应该会增加对影响 COPD 发病机制的遗传和表观遗传机制的理解,这些机制与严重的 AAT 缺乏有关和无关。这种理解最终应该转化为预防、诊断和治疗 COPD 的新方法。