UW-FHCRC Variation Discovery Resource

SeattieSNPs是华盛顿大学（UW）和Fred哈钦森癌症研究中心（FHCRC）之间的联合项目，专注于识别，基因分型和建模候选基因中的单核苷酸多态性（SNPs）与人类炎症反应基础途径之间的关联。炎症是与包括哮喘、慢性阻塞性肺疾病、冠状动脉疾病和中风在内的多种常见人类疾病相关的基本生理反应，并且已经鉴定出该反应的标记物是人类疾病风险的敏感预测因子，例如C-反应蛋白。在这次更新中，我们建议：1）继续发展我们的高 通过检查300个参与炎症的额外候选基因以及其他生物系统和对心脏，肺，血液和睡眠疾病表型重要的途径，成功发现变异资源，如NHLBI调查人员所要求的; 2）增强与SeattleSNPs中的大规模变异数据集相关的信息，NHLBI研究人员使用计算机功能预测和群体遗传分析的PGA和dbSNP; 3）根据NHLBI调查人员的要求，在PGA资源内建立模型并探索群体遗传学的关键问题，并通过探索其他人群的变异来探索假设; 4）加强我们的合作努力，帮助NHLBI研究人员在大规模关联研究中应用变异资源，探索人群中的疾病易感性和抵抗力;以及5）继续提供遗传学方面的教育机会， 通过PGA提供的教程以及通过在西雅图提供的动手计算密集型研讨会，对人类群体进行分析和群体遗传学研究。因此，我们计划产生新的资源，并与NHLBI研究人员合作，探索人类基因变异与影响人类心脏、肺或血液功能的常见疾病风险变异之间的关系。

SeattieSNPs is a joint program between the University of Washington (UW) and the Fred Hutchinson Cancer Research Center (FHCRC) focused on identifying, genotyping, and modeling the associations between single nucleotide polymorphisms (SNPs) in candidate genes and pathways that underlie inflammatory responses in humans. Inflammation is a basic physiologic response linked to a wide variety of common human disorders including asthma, chronic obstructive pulmonary disease, coronary artery disease and stroke, and markers of this response have been identified that sensitive predictors of human disease risk such as C-reactive protein. In this renewal, we propose: 1) to continue the development of our high successful variation discovery resource by examining 300 additional candidate genes involved in inflammation as well as other biological systems and pathways important to heart, lung, blood, and sleep disease phenotypes as requested by NHLBI investigators; 2) to enhance the information associated with large-scale variation datasets in SeattleSNPs, the PGAs and dbSNP for NHLBI investigators using in silico Iunctional predictions and population genetic analyses; 3) to model and explore key questions in population genetic within the PGA resources and to explore hypothesis by exploring variation in additional human populations and as requested by NHLBI investigators; 4) to increase our collaborative efforts in helping NHLBI investigators apply variation resources in large-scale association studies explore disease susceptibility and resistance in human populations; and 5) to continue educational opportunities on genetic analysis and population genetic of human populations through tutorials offered by the PGAs, and through hands-on computational intensive workshops offered in Seattle. Therefore, our plan to generate new resources and work with the NHLBI investigators to explore the relationships that exist between variations in human genes, and variation in risk for common disorders influencing human heart, lung or blood function.