GENETIC EPIDEMIOLOGY OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 这项研究旨在进行广泛的全基因组分析和COPD许多方面的可能遗传基础的定位。 这是美国国立卫生研究院有史以来资助的最大和最昂贵的COPD研究。 吸烟被广泛认为是COPD的主要原因。 然而，只有少数吸烟者会患上COPD。 有不同类型的肺部疾病被归类在COPD标题下，但具有非常不同的特征。 肺气肿患者的肺泡受损，气体交换不畅。 患有慢性支气管炎等气道疾病的人会因炎症和粘液分泌增加而使气道变窄。 目前尚不清楚为什么一些吸烟者可能会患上一种形式的疾病而不是其他形式。 对COPD等复杂疾病的遗传学研究有可能深入了解COPD差异和易感性的机制。 吸烟者之间气流阻塞发展的显著变异性、COPD（和特定类型的COPD）的明确家族聚集性以及特定类型的COPD与严重早发性COPD家族中特定基因或基因组的连锁，表明吸烟者易患COPD的强大遗传基础。 本研究将尝试进行全面的全基因组分析，以确定两个主要种族/民族群体中影响COPD的基因：非西班牙裔高加索人和非洲裔美国人。 这两个组是经过仔细选择的;预计各种族之间的遗传相关性存在明显差异，因此确定在本初始研究中研究所有种族不可行。 所有研究受试者都有吸烟史，但将研究已发生COPD和未发生COPD的受试者。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. This study is designed to be an extensive effort to perform a genome-wide analysis and mapping of the possible genetic basis for the many aspects of COPD. It is the largest and most expensive COPD study ever funded by the NIH. Cigarette smoking is widely acknowledged to be the main cause of COPD. However, only a minority of all smokers will develop COPD. There are different types of lung disease that are grouped under the heading of COPD but have very different characteristics. People who develop emphysema have damaged alveoli and poor gas exchange. People who develop airway disease such as chronic bronchitis will have narrowed airways with inflammation and increased mucus production. It is not clear why some smokers might develop one form of the disease over the other forms. Genetic studies of complex diseases like COPD have the potential to provide insight into the mechanisms of COPD differences and susceptibility. A strong genetic basis for susceptiblility of smokers to develop COPD is suggested by marked variability in the development of airflow obstruction among smokers, clear familial clustering of COPD (and specific types of COPD), and linkage of specific types of COPD to specific genes or groups of genes in families with severe, early-onset COPD. This study will attempt a comprehensive genome-wide analysis to identify genes influencing COPD in two major racial/ethnic groups: non-Hispanic Caucasians and African-Americans. These two groups were carefully chosen; there is expected to be appreciable differences in genetic associations among ethnic groups and it was determined to be not feasible to study all ethnic groups in this initial study. All study subjects will have a history of smoking, but both those who have developed COPD and those who have not will be studied.