采用病例对照研究和基于家系的关联研究，以Taqman SNP genotyping 等方法，分析海南黎族和汉族民族间、民族内COPD患病的危险因素；检测COPD 患者端粒长度相关基因中遴选出的标签单核苷酸多态性（tag SNP）并分析其基因单倍体在海南汉族、黎族COPD患者中的比例；比较民族内、民族间COPD 患病的影响因素及遗传易感性的差异，分析环境等因素与COPD基因多态性的交互作用，以从基因多态性、民族、环境等多角度多层次探索COPD 的发病机制。不仅可为海南黎族COPD 患者的防治提供更多的流行病学及遗传学资料，还可能发现新的突变或缺失类型，为COPD的药物治疗提供潜在靶点。通过对易感性位点进行生物学功能的预测和探索，为研究COPD的发病机制提供更多理论依据。而且将首次揭示海南黎、汉族COPD 患者端粒长度相关基因遗传和基因多态性变化的类型及其生物学功能，丰富我国生物资源基因库。

Chronic obstructive pulmonary disease (COPD) is a serious health problem. Individual genetic susceptibility factors influence the risk of COPD. This project utilizes case-control study and family-based association study with Taqman SNP genotyping method to analyze risk factors between or within Hainan Li and Han patients, to analyze the percentage of tag SNP based haploid gene in Hainan Li and Han patients by selecting tag SNP in COPD telomere regulating genes, to compare risk factors and genetic susceptibility difference within and between COPD patients, finally to evaluate the pathogenesis of COPD from genetic polymorphism, race and environmental perspectives by analyzing the interaction between environmental factors and COPD genetic polymorphism. This project will not only provide more epidemiological and genetic data for the prevention and treatment of Hainan Li COPD patients, but also will provide novel potential targets for drug treatment of COPD by finding new types of mutation or deletion mutation. This project will provide more theoretical basis for the pathogenesis of COPD by predicting biological functions of the susceptibility loci. This project will also reveal telomere length regulating gene polymorphism in Hainan Li and Han COPD patients and its biological function for the first time, which has great scientific significance for the enrichment of biological resource gene banks in China.