GWAS Studies

GWAS研究

• 批准号: 8241814
• 负责人: DAVID HEIMBROOK
• 金额: $ 653.06万
• 依托单位: LEIDOS BIOMEDICAL RESEARCH, INC.
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-09-26 至 2018-09-25
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8241814
• 关键词: Affect; Case-Control Studies; Collaborations; Complex; DNA; Data; Data Set; Diagnostic; Disease; Ensure; Epidemiologic Studies; Extramural Activities; Future; Genes; Genetic Markers; Genetic Predisposition to Disease; Genetic Variation; Genomics; Individual; Inherited; Institutes; Lead; Malignant Neoplasms; Malignant neoplasm of prostate; Maps; Persons; Pilot Projects; Predisposition; Preventive; Private Sector; Research; Research Personnel; Resources; Risk; Scanning; Scientist; Series; Techniques; Therapeutic Intervention; United States National Institutes of Health; Variant; cancer epidemiology; cancer genetics; cancer risk; case control; cohort; disorder risk; gene environment interaction; genetic variant; genome wide association study; malignant breast neoplasm; population based; programs; trait

The Cancer Genetic Markers of Susceptibility (CGEMS) project began in 2005 as a 3-year pilot study to identify inherited genetic susceptibility to prostate and breast cancer. CGEMS has developed into a robust research program involving genome-wide association studies (GWASs) for a number of cancers to identify common genetic variants that affect a person's risk of developing cancer. In collaboration with extramural scientists, NCI's Division of Cancer Epidemiology and Genetics (DCEG) has carried out genome-wide scans for common and/or highly lethal cancers extensively studied by the Division. CGEMS relies upon data from the NCI Consortium as well as collaborative case-control epidemiologic studies with biospecimens. By scanning the DNA collected from individuals participating in these cohort or case-control studies, scientists have identified common inherited genetic variants associated with cancer risk that may lead to new preventive, diagnostic, and therapeutic interventions. The pooling of large data sets provides the statistical power to quantify the risks associated with specific gene variants and exposures, and enables subset analyses that uncover gene-gene and gene-environment interactions. In the future, researchers will apply fine-mapping and deep sequencing techniques to regions or loci identified by these scans to pinpoint the specific functional variants responsible for disease risk and the biologic mechanisms involved. Ultimately, findings from these studies may yield new preventive, diagnostic, and therapeutic interventions for cancer.

癌症遗传易感性标记 (CGEMS) 项目始于 2005 年，作为一项为期 3 年的试点研究，旨在确定前列腺癌和乳腺癌的遗传易感性。 CGEMS 已发展成为一项强大的研究计划，涉及针对多种癌症的全基因组关联研究 (GWAS)，以识别影响个人患癌症风险的常见遗传变异。 NCI 癌症流行病学和遗传学部门 (DCEG) 与校外科学家合作，对该部门广泛研究的常见和/或高致死性癌症进行了全基因组扫描。 CGEMS 依赖于 NCI 联盟的数据以及生物样本的协作病例对照流行病学研究。通过扫描从参与这些队列或病例对照研究的个体中收集的 DNA，科学家们发现了与癌症风险相关的常见遗传变异，这可能会导致新的预防、诊断和治疗干预措施。大数据集的汇集提供了统计能力来量化与特定基因变异和暴露相关的风险，并使得子集分析能够揭示基因-基因和基因-环境相互作用。 未来，研究人员将对这些扫描识别的区域或位点应用精细绘图和深度测序技术，以查明导致疾病风险的特定功能变异和所涉及的生物学机制。最终，这些研究的结果可能会产生新的癌症预防、诊断和治疗干预措施。