Genes and chronic obstructive pulmonary disease.
Genes and chronic obstructive pulmonary disease.
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DOI：
10.1016/j.mcna.2012.02.006
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发表时间：
2012-07
期刊：
影响因子：
--
通讯作者：
Celedón JC
中科院分区：
文献类型：
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作者：
Foreman MG;Campos M;Celedón JC
吸烟对肺功能的有害影响的个体易感性的显著差异和发现表明，COPD的遗传贡献显着，这已在几项研究中得到证实。COPD的唯一已知遗传风险因素是严重的α 1抗胰蛋白酶（AAT）缺乏症，仅解释了1-2%的这种疾病病例。应在所有COPD病例中进行重度AAT筛查。当治疗因严重AAT缺乏而患有COPD的患者时，静脉内强化治疗应与目前推荐的COPD治疗方式相结合。鉴定与严重AAT缺乏无关的COPD易感基因具有相当大的兴趣，因为这可以通过对其发病机制产生新的见解来大大增强目前预防、诊断和治疗这种疾病的努力。COPD及其中间表型的全基因组关联研究（GWAS）（例如，肺功能测量）已经鉴定了COPD的新的易感性位点。这些易感基因座中的一些也可能影响一般人群的肺功能（例如，HHIP和FAM 13 A），而其他可能不仅影响COPD，还影响与吸烟行为相关的其他疾病（例如，CHRNA3/CHRNA5）。虽然还有很多工作要做，但最近的进展和研究COPD遗传学的新方法的实施（例如，测序）和表观遗传学是有希望的，并可能对COPD管理产生深远的影响。
The marked variability in individual susceptibility to the detrimental effects of smoking on lung function and findings suggest a significant genetic contribution to COPD, which has been demonstrated in several studies. The only known genetic risk factor for COPD, severe alpha 1 antitrypsin (AAT) deficiency, explains only 1–2% of cases of this disease. Screening for severe AAT should be conducted in all cases of COPD. Intravenous augmentation therapy should be combined with currently recommended treatment modalities for COPD when treating patients with COPD due to severe AAT deficiency. There is considerable interest in identifying susceptibility genes for COPD unrelated to severe AAT deficiency, as this could greatly enhance current efforts to prevent, diagnose and treat this disease by yielding novel insights into its pathogenesis. Genome-wide association studies (GWAS) of COPD and its intermediate phenotypes (e.g., lung function measures) have identified novel susceptibility loci for COPD. Some of these susceptibility loci may also influence lung function in the general population (e.g., HHIP and FAM13A), while others may affect not only COPD but other diseases related to smoking behavior (e.g., CHRNA3/CHRNA5). Although much work remains to be done, recent advances and the implementation of novel approaches to study COPD genetics (e.g., sequencing) and epigenetics are promising, and could have a profound impact on COPD management.
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影响因子：
3.7
作者：
Corda, Luciano;Bertella, Enrica;Tantucci, Claudio
通讯作者：
Tantucci, Claudio
影响因子：
3.5
作者：
BUCURENCI, N;BLAKE, DR;WINYARD, PG
通讯作者：
WINYARD, PG
DOI：
10.1073/pnas.79.6.2041
发表时间：
1982-01-01
期刊：
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES
影响因子：
--
作者：
CARP, H;MILLER, F;JANOFF, A
通讯作者：
JANOFF, A
DOI：
10.1513/pats.201101-003ms
发表时间：
2011-05-01
期刊：
Proceedings of the American Thoracic Society
影响因子：
--
作者：
Cookson, William O C;Moffatt, Miriam F
通讯作者：
Moffatt, Miriam F
影响因子：
30.8
作者：
通讯作者：
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