GENETIC EPIDEMIOLOGY OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 这项研究旨在对COPD许多方面的可能遗传基础进行全基因组分析和图谱绘制。这是美国国立卫生研究院资助的规模最大、费用最高的慢性阻塞性肺病研究。 吸烟被广泛认为是慢性阻塞性肺疾病的主要原因。然而，只有一小部分吸烟者会患上慢性阻塞性肺疾病。有不同类型的肺部疾病归类在COPD的标题下，但具有非常不同的特征。患有肺气肿的人肺泡受损，气体交换不良。患有慢性支气管炎等呼吸道疾病的人会因炎症和粘液产生增加而使呼吸道变窄。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的疾病。 对COPD等复杂疾病的遗传学研究有可能深入了解COPD的差异和易感性的机制。吸烟者易患COPD的遗传基础是：吸烟者发生气流阻塞的显著差异性，COPD(和特定类型的COPD)明显的家族聚集性，以及在严重的早发性COPD家族中，特定类型的COPD与特定的基因或基因组的连锁。 这项研究将尝试一项全面的全基因组分析，以确定在两个主要种族/民族群体中影响COPD的基因：非西班牙裔高加索人和非裔美国人。这两个群体是经过精心挑选的；预计各族裔群体之间的遗传联系会有明显的差异，在这项初步研究中确定不可能研究所有各族裔群体。所有研究对象都将有吸烟史，但那些患有COPD和没有患上COPD的人都将被研究。

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.