GENETIC EPIDEMIOLOGY OF CHRONIC OBSTRUCTIVE PULMONARY DISEASE

慢性阻塞性肺疾病的遗传流行病学

• 批准号: 7952266
• 负责人: RICHARD CASABURI
• 金额: $ 12.47万
• 依托单位: LUNDQUIST INSTITUTE FOR BIOMEDICAL INNOVATION AT HARBOR-UCLA MEDICAL CENTER
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-12-01 至 2009-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7952266
• 关键词: African American; Alveolus; Caucasians; Caucasoid Race; Characteristics; Chronic Bronchitis; Chronic Obstructive Airway Disease; Clinical Research; Complex; Computer Retrieval of Information on Scientific Projects Database; Development; Disease; Ethnic group; Family; Funding; Gases; Genes; Genetic; Grant; Head; Inflammation; Institution; Lung diseases; Maps; Minority; Mucous body substance; Not Hispanic or Latino; Obstruction; Predisposition; Production; Pulmonary Emphysema; Research; Research Personnel; Resources; Smoker; Smoking History; Source; Study Subject; United States National Institutes of Health; base; cigarette smoking; design; early onset; genetic association; genetic epidemiology; genome wide association study; genome-wide analysis; insight; racial and ethnic

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.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目和 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 这项研究旨在进行全基因组分析并绘制慢性阻塞性肺病许多方面可能的遗传基础图谱。 这是美国国立卫生研究院 (NIH) 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病的主要原因。 然而，只有少数吸烟者会患上慢性阻塞性肺病。 有不同类型的肺部疾病被归为慢性阻塞性肺病，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气道疾病的人会因炎症而气道狭窄，粘液分泌增多。 目前尚不清楚为什么一些吸烟者可能会患上一种疾病而不是其他形式的疾病。 对慢性阻塞性肺病等复杂疾病的遗传学研究有可能深入了解慢性阻塞性肺病差异和易感性的机制。 吸烟者气流阻塞发展的显着差异、COPD（和特定类型的COPD）的明显家族聚集性、以及特定类型的COPD与患有严重、早发性COPD的家族中的特定基因或基因组的联系，表明吸烟者罹患COPD的易感性具有强大的遗传基础。 这项研究将尝试进行全面的全基因组分析，以确定影响两个主要种族/族裔群体中慢性阻塞性肺病的基因：非西班牙裔白种人和非洲裔美国人。 这两组都是经过精心挑选的；预计种族群体之间的遗传关联存在明显差异，并且确定在这项初步研究中研究所有种族群体是不可行的。 所有研究对象都有吸烟史，但患有慢性阻塞性肺病和未患慢性阻塞性肺病的人都将受到研究。