Genetic epidemiology of COPD (COPDGene) study design.
Genetic epidemiology of COPD (COPDGene) study design.
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DOI：
10.3109/15412550903499522
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发表时间：
2010-02
期刊：
影响因子：
2.2
通讯作者：
Crapo JD
中科院分区：
文献类型：
--
作者：
Regan EA;Hokanson JE;Murphy JR;Make B;Lynch DA;Beaty TH;Curran-Everett D;Silverman EK;Crapo JD
COPD基因是一项多中心观察性研究，旨在确定与COPD相关的遗传因素。它还将描述COPD受试者的胸部CT表型，包括评估肺气肿、气体潴留和气道壁增厚。最后，基于这些表型的COPD亚型将用于全面的全基因组研究，以确定COPD易感基因。COPDGene将在GOLD阶段招募10，000名患有和不患有COPD的吸烟者。队列中包括非西班牙裔白色和非裔美国人受试者。将对所有受试者进行吸气和呼气胸部CT扫描。除了横断面入组过程外，还将定期对这些受试者进行纵向研究随访。将对4000例受试者的初始组进行全基因组关联研究（GWAS），以确定与病例对照状态相关的遗传变异和与COPD相关的几种定量表型。初步研究结果将在另外2000例COPD病例和2000例吸烟对照受试者中进行验证，并将进行进一步的验证关联研究。COPDGene将提供有关COPD遗传因素的重要新信息，并将使用高分辨率CT扫描表征疾病过程。了解定义COPD的遗传因素和CT表型将可能允许这种疾病的早期诊断，并可能导致治疗的发展，以改变进展。
COPDGeneis a multicenter observational study designed to identify genetic factors associated with COPD. It will also characterize chest CT phenotypes in COPD subjects, including assessment of emphysema, gas trapping, and airway wall thickening. Finally, subtypes of COPD based on these phenotypes will be used in a comprehensive genome-wide study to identify COPD susceptibility genes. COPDGene will enroll 10,000 smokers with and without COPD across the GOLD stages. Both Non-Hispanic white and African-American subjects are included in the cohort. Inspiratory and expiratory chest CT scans will be obtained on all participants. In addition to the cross-sectional enrollment process, these subjects will be followed regularly for longitudinal studies. A genome-wide association study (GWAS) will be done on an initial group of 4000 subjects to identify genetic variants associated with case-control status and several quantitative phenotypes related to COPD. The initial findings will be verified in an additional 2000 COPD cases and 2000 smoking control subjects, and further validation association studies will be carried out. COPDGene will provide important new information about genetic factors in COPD, and will characterize the disease process using high resolution CT scans. Understanding genetic factors and CT phenotypes that define COPD will potentially permit earlier diagnosis of this disease and may lead to the development of treatments to modify progression.
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影响因子：
5.8
作者：
Hersh, Craig P.;DeMeo, Dawn L.;Reilly, John J.;Silverman, Edwin K.
通讯作者：
Silverman, Edwin K.
DOI：
10.1164/ajrccm.164.8.2105002
发表时间：
2001-10-15
影响因子：
24.7
作者：
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通讯作者：
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DOI：
10.1513/pats.200603-086ms
发表时间：
2005-01-01
期刊：
Proceedings of the American Thoracic Society
影响因子：
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作者：
Simon, Brett A;Christensen, Gary E;Reinhardt, Joseph M
通讯作者：
Reinhardt, Joseph M
影响因子：
4.5
作者：
Pillai SG;Ge D;Zhu G;Kong X;Shianna KV;Need AC;Feng S;Hersh CP;Bakke P;Gulsvik A;Ruppert A;Lødrup Carlsen KC;Roses A;Anderson W;Rennard SI;Lomas DA;Silverman EK;Goldstein DB;ICGN Investigators
通讯作者：
ICGN Investigators
影响因子：
30.8
作者：
Van Steen, K;McQueen, MB;Lange, C
通讯作者：
Lange, C