APPLIED GENOMICS IN CARDIOPULMONARY DISEASE

在未来十年，单核苷酸多态(SNPs)的使用很可能成为发现遗传连锁和疾病关联的主要工具。目前进入实验室的新技术将使研究人员能够进行高通量研究，而到目前为止，这些研究是不可能的。基因分型核心建议在已证实或推测与人类心肺疾病相关的基因中定位SNPs。我们每年将选择20个候选基因用于呼吸道疾病(囊性纤维化、慢性阻塞性肺疾病和哮喘)的SNP分析，并从我们在人类和动物疾病模型中的表达谱分析的比较中选择。我们预计每个基因有三到五个SNP，然后我们可以在明确定义的患者群体中进行评估。我们假设SNP可以解释仔细定义的疾病严重程度的表型差异。

The use of single nucleotide polymorphisms (SNPs) is likely to become a major tool for the discovery of genetic linkage and disease association in the coming decade. New technologies currently entering the laboratory will allow investigators to perform high throughput studies that, until now, were impossible. The Genotyping Core proposes to locate SNPs in genes with demonstrated or presumed relevance to human cardiopulmonary disease. We will select 20 candidate genes for SNP analysis per year in airway diseases (cystic fibrosis, chronic obstructive pulmonary disease, and asthma) and selected from comparisons of our expression profiling analysis in human and animal models of human disease. We anticipate three to five SNPs per gene, which we can then evaluate in well-defined patient populations. We hypothesize SNP may explain phenotypic differences in carefully defined disease severity.