慢性阻塞性肺疾病遗传学进展
Progress in chronic obstructive pulmonary disease genetics.
作者信息
Silverman Edwin K
机构信息
Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115, USA.
出版信息
Proc Am Thorac Soc. 2006 Jul;3(5):405-8. doi: 10.1513/pats.200603-092AW.
Abstract
Familial aggregation of chronic obstructive pulmonary disease (COPD) has been demonstrated, suggesting that genetic factors likely influence the variable development of chronic airflow obstruction in response to smoking. A variety of approaches have been used to identify novel COPD susceptibility genes, including association studies, linkage analysis, and rare variant analysis. Future directions for COPD research include genomewide association studies and animal model genetic studies.
摘要
慢性阻塞性肺疾病（COPD）的家族聚集性已得到证实，这表明遗传因素可能影响对吸烟做出反应的慢性气流阻塞的可变发展。人们已采用多种方法来识别新的COPD易感基因，包括关联研究、连锁分析和罕见变异分析。COPD研究的未来方向包括全基因组关联研究和动物模型遗传学研究。
相似文献
1
Progress in chronic obstructive pulmonary disease genetics.慢性阻塞性肺疾病遗传学进展
Proc Am Thorac Soc. 2006 Jul;3(5):405-8. doi: 10.1513/pats.200603-092AW.
2
Familial lung cancer: genetic susceptibility and relationship to chronic obstructive pulmonary disease.家族性肺癌：遗传易感性及其与慢性阻塞性肺疾病的关系
Am J Respir Crit Care Med. 2006 Jan 1;173(1):16-22. doi: 10.1164/rccm.200502-235PP. Epub 2005 Sep 1.
3
[Chronic obstructive pulmonary disease and genetics].[慢性阻塞性肺疾病与遗传学]
Ugeskr Laeger. 2008 Sep 15;170(38):2971-3.
4
[Familial predisposition to chronic obstructive pulmonary disease].[慢性阻塞性肺疾病的家族易感性]
Pneumonol Alergol Pol. 2009;77(4):407-10.
5
Genetics of COPD.COPD 的遗传学。
Allergol Int. 2011 Sep;60(3):253-8. doi: 10.2332/allergolint.11-RAI-0326.
6
[Genetics of chronic obstructive pulmonary disease].[慢性阻塞性肺疾病的遗传学]
Nihon Rinsho. 2011 Oct;69(10):1758-62.
7
Genetics of COPD and emphysema.慢性阻塞性肺疾病和肺气肿的遗传学
Chest. 2009 Sep;136(3):859-866. doi: 10.1378/chest.09-0555.
8
The genetics of chronic obstructive pulmonary disease.慢性阻塞性肺疾病的遗传学
Respir Res. 2001;2(1):20-6. doi: 10.1186/rr34. Epub 2001 Jan 11.
9
Genetics of chronic obstructive pulmonary disease.慢性阻塞性肺疾病的遗传学
Novartis Found Symp. 2001;234:45-58; discussion 58-64.
10
1. COPD pathogenesis from the viewpoint of risk factors.1. 从危险因素角度看慢性阻塞性肺疾病的发病机制。
Intern Med. 2007;46(2):77-9. doi: 10.2169/internalmedicine.46.1775. Epub 2007 Jan 15.
引用本文的文献
1
COPD Patients Exhibit Distinct Gene Expression, Accelerated Cellular Aging, and Bias to M2 Macrophages.COPD 患者表现出独特的基因表达、加速的细胞衰老和偏向 M2 巨噬细胞。
Int J Mol Sci. 2023 Jun 8;24(12):9913. doi: 10.3390/ijms24129913.
2
Integration of transcriptome analysis with pathophysiological endpoints to evaluate cigarette smoke toxicity in an in vitro human airway tissue model.将转录组分析与病理生理终点相结合，评估体外人呼吸道组织模型中香烟烟雾的毒性。
Arch Toxicol. 2021 May;95(5):1739-1761. doi: 10.1007/s00204-021-03008-0. Epub 2021 Mar 3.
3
Animal Models Reflecting Chronic Obstructive Pulmonary Disease and Related Respiratory Disorders: Translating Pre-Clinical Data into Clinical Relevance.反映慢性阻塞性肺疾病及相关呼吸系统疾病的动物模型：将临床前数据转化为临床相关性。
J Innate Immun. 2020;12(3):203-225. doi: 10.1159/000502489. Epub 2019 Sep 17.
4
Association of Functional Variants of Phase I and II Genes with Chronic Obstructive Pulmonary Disease in a Serbian Population.塞尔维亚人群中I期和II期基因功能变异与慢性阻塞性肺疾病的关联
J Med Biochem. 2015 Apr;34(2):207-214. doi: 10.2478/jomb-2014-0024. Epub 2015 Mar 3.
5
Altered regulation and expression of genes by BET family of proteins in COPD patients.慢性阻塞性肺疾病（COPD）患者中BET蛋白家族对基因的调控及表达改变
PLoS One. 2017 Mar 1;12(3):e0173115. doi: 10.1371/journal.pone.0173115. eCollection 2017.
6
Passive smoking and chronic obstructive pulmonary disease mortality: findings from the Japan collaborative cohort study.被动吸烟与慢性阻塞性肺疾病死亡率：日本合作队列研究的结果
Int J Public Health. 2017 May;62(4):489-494. doi: 10.1007/s00038-016-0938-1. Epub 2017 Feb 17.
7
Whole exome sequencing identifies novel candidate genes that modify chronic obstructive pulmonary disease susceptibility.全外显子组测序鉴定出可改变慢性阻塞性肺疾病易感性的新型候选基因。
Hum Genomics. 2016 Jan 7;10:1. doi: 10.1186/s40246-015-0058-7.
8
A predictive model for the development of chronic obstructive pulmonary disease.慢性阻塞性肺疾病发生的预测模型。
Biomed Rep. 2015 Nov;3(6):853-863. doi: 10.3892/br.2015.503. Epub 2015 Aug 5.
9
Common genetic determinants of lung function, subclinical atherosclerosis and risk of coronary artery disease.肺功能、亚临床动脉粥样硬化和冠状动脉疾病风险的常见遗传决定因素。
PLoS One. 2014 Aug 5;9(8):e104082. doi: 10.1371/journal.pone.0104082. eCollection 2014.
10
Transposable elements and their potential role in complex lung disorder.转座元件及其在复杂肺部疾病中的潜在作用。
Respir Res. 2013 Oct 5;14(1):99. doi: 10.1186/1465-9921-14-99.
本文引用的文献
1
The SERPINE2 gene is associated with chronic obstructive pulmonary disease.丝氨酸蛋白酶抑制剂E2基因与慢性阻塞性肺疾病相关。
Am J Hum Genet. 2006 Feb;78(2):253-64. doi: 10.1086/499828. Epub 2005 Dec 15.
2
A functional mutation in the terminal exon of elastin in severe, early-onset chronic obstructive pulmonary disease.严重早发型慢性阻塞性肺疾病中弹性蛋白末端外显子的功能性突变。
Am J Respir Cell Mol Biol. 2005 Oct;33(4):355-62. doi: 10.1165/rcmb.2005-0206OC. Epub 2005 Aug 4.
3
Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations.对已报道的慢性阻塞性肺疾病候选基因关联进行的复制尝试。
Am J Respir Cell Mol Biol. 2005 Jul;33(1):71-8. doi: 10.1165/rcmb.2005-0073OC. Epub 2005 Apr 7.
4
Genome-wide association studies for common diseases and complex traits.常见疾病和复杂性状的全基因组关联研究。
Nat Rev Genet. 2005 Feb;6(2):95-108. doi: 10.1038/nrg1521.
5
Smoke and mirrors: Mouse models as a reflection of human chronic obstructive pulmonary disease.烟雾与镜像：作为人类慢性阻塞性肺疾病反映的小鼠模型
Am J Respir Crit Care Med. 2004 Nov 1;170(9):929-31. doi: 10.1164/rccm.2408007.
6
Chronic obstructive pulmonary disease in alpha1-antitrypsin PI MZ heterozygotes: a meta-analysis.α1-抗胰蛋白酶PI MZ杂合子中的慢性阻塞性肺疾病：一项荟萃分析。
Thorax. 2004 Oct;59(10):843-9. doi: 10.1136/thx.2004.022541.
7
Genome-wide linkage of forced mid-expiratory flow in chronic obstructive pulmonary disease.慢性阻塞性肺疾病中用力呼气中期流速的全基因组连锁分析
Am J Respir Crit Care Med. 2004 Dec 15;170(12):1294-301. doi: 10.1164/rccm.200404-524OC. Epub 2004 Sep 3.
8
Multiple rare alleles contribute to low plasma levels of HDL cholesterol.多个罕见等位基因导致高密度脂蛋白胆固醇的血浆水平降低。
Science. 2004 Aug 6;305(5685):869-72. doi: 10.1126/science.1099870.
9
The development of emphysema in cigarette smoke-exposed mice is strain dependent.暴露于香烟烟雾中的小鼠肺气肿的发展具有品系依赖性。
Am J Respir Crit Care Med. 2004 Nov 1;170(9):974-80. doi: 10.1164/rccm.200309-1270OC. Epub 2004 Jul 28.
10
Glutathione S-transferase variants and their interaction with smoking on lung function.谷胱甘肽S-转移酶变体及其与吸烟对肺功能的相互作用。
Am J Respir Crit Care Med. 2004 Aug 15;170(4):388-94. doi: 10.1164/rccm.200312-1763OC. Epub 2004 Jun 7.
Zotero 插件