CORE-- Genetic Susceptibility

描述(由申请人提供)：遗传易感性研究核心旨在阐明基因变异对人类环境疾病风险的相对贡献。关于基因如何影响环境疾病的发生，有两个广泛的研究领域。一种主要是流行病学方法，使用关联研究将疾病的发生率与特定的遗传多态或一组多态联系起来。第二条研究途径是研究家族性癌症基因，这些基因主要是通过遗传连锁分析确定的。因此，这两种方法将流行病学科学家的努力与基于分子生物学的研究人员的努力结合起来，评估细胞周期检查点和DNA修复机制的变化如何导致疾病表型，特别是涉及各种癌症的疾病。核心有五个目标。第一是支持和扩大利用最先进的实验室方法和严格设计的流行病学方法在遗传易感性方面的合作研究。第二是定期整合DNA损伤和修复机制的研究人员和参与 致癌过程中基因与环境相互作用的现场研究。三是推动分子遗传学与生殖、儿科、肺病和心血管疾病研究领域的融合。第四是促进关于基因检测技术的政策影响和基因研究结果的对话。最终目标是通过试点项目促进新的合作。

Description (provided by applicant): The Genetic Susceptibility Research Core seeks to elucidate the relative contributions of genetic variants to human risk of environmental disease. There are two broad areas of research into how genes affect the occurrence of environmental disease. One is primarily epidemiologic in approach, using association studies to link the incidence of disease with a particular genetic polymorphism or set of polymorphisms. A second research pathway studies familial cancer genes, which have been identified primarily by genetic linkage analyses. These two approaches thus integrate the efforts of epidemiological scientists with those of molecular biological-based investigators in the evaluation of how changes in cell cycle check points and DNA repair mechanisms can lead to disease phenotypes, particularly those involving various cancers. The Core has five objectives. The first is to support and expand collaborative research in genetic susceptibility utilizing state-of-the-art laboratory methods and rigorously designed epidemiologic approaches. The second is to integrate, on a regular basis, researchers in mechanisms of DNA damage and repair and epidemiologists involved in field studies of gene/environment interactions in carcinogenesis. The third is to promote the integration of molecular genetics into the areas of reproductive, pediatric, pulmonary, and cardiovascular disease research. The fourth is to foster dialogue regarding policy implications of genetic-testing technology and results of genetic research. The final objective is to stimulate new collaborations through pilot projects.