COPD（COPDGene）遗传流行病学研究设计。
Genetic epidemiology of COPD (COPDGene) study design.
机构信息
National Jewish Health, Denver, Colorado, USA.
出版信息
COPD. 2010 Feb;7(1):32-43. doi: 10.3109/15412550903499522.
BACKGROUND
COPDGene is 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.
METHODS/RESULTS: 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.
CONCLUSIONS
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.
背景
COPDGene 是一项多中心观察性研究，旨在确定与 COPD 相关的遗传因素。它还将对 COPD 患者的胸部 CT 表型进行特征描述，包括肺气肿、气体陷闭和气道壁增厚的评估。最后，将基于这些表型的 COPD 亚型用于全面的全基因组研究，以确定 COPD 易感基因。
方法/结果：COPDGene 将招募 10000 名有和无 COPD 的 GOLD 各期吸烟者。非西班牙裔白人和非裔美国人都包括在队列中。所有参与者都将接受吸气和呼气胸部 CT 扫描。除了横断面入组过程外，这些受试者还将定期进行纵向研究。对初始的 4000 名受试者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 相关的几个定量表型。初始发现将在另外 2000 例 COPD 病例和 2000 例吸烟对照受试者中进行验证，并进一步进行验证关联研究。
结论
COPDGene 将提供有关 COPD 遗传因素的重要新信息，并使用高分辨率 CT 扫描对疾病过程进行特征描述。了解定义 COPD 的遗传因素和 CT 表型可能有助于更早地诊断这种疾病，并可能导致开发用于改变疾病进展的治疗方法。
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