Database of Functional SNPs in Cancer-Related Environmentally Responsive Genes

癌症相关环境响应基因中的功能性 SNP 数据库

• 批准号: 7359646
• 负责人: YONG ZHU
• 金额: $ 27.23万
• 依托单位: YALE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2010-02-28
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7359646
• 关键词: Address; Affect; Amino Acid Sequence; Amino Acids; Apoptosis; Bioinformatics; Biological; Biological Markers; Case-Control Studies; Cell Cycle Checkpoint; Complex; Computing Methodologies; DNA; DNA Binding; DNA Repair; DNA Sequence; Data; Databases; Development; Disease; Disease susceptibility; Environment; Environmental Exposure; Enzymes; Epidemiologic Studies; Exons; Future; Genes; Genetic; Genetic Polymorphism; Genetic Transcription; Genetic Variation; Genomics; Genotype; Goals; Hypertension; In Vitro; Introns; Kinetics; Knowledge; Link; Malignant Neoplasms; Malignant neoplasm of lung; Maps; Metabolism; Methods; Molecular; Odds Ratio; Online Systems; Pathway interactions; Population; Positioning Attribute; Predictive Value; Process; Property; Proteins; Publications; RNA Splicing; Research Personnel; Risk Estimate; Role; Scientist; Signal Transduction; Single Nucleotide Polymorphism; Site; Structural Protein; Surveys; base; cancer risk; cancer type; disorder risk; gene environment interaction; genetic association; human disease; interdisciplinary approach; interest; lung tumorigenesis; outcome forecast; programs; protein function; protein structure; receptor; research study; response; text searching; tool; trait

DESCRIPTION (provided by applicant): With millions of single nucleotide polymorphisms (SNPs) identified, there is now a great need for prioritizing potential functional SNPs that are most likely to affect phenotypic functions and ultimately contribute to disease development. This proposal will explore the application of available bioinformatic methods in functional SNP selection by focusing on genes responsible for environmental responses. Validity of these approaches will be assessed by literature search and empirical confirmations. Specifically, the aims of this proposal are: 1) To identify SNPs with potential functional importance in approximately 700 environmentally responsive genes using SNPs collected from public SNP databases and screened by available bioinformatic tools. A functional SNP database will be constructed. 2).To survey previous publications examining SNP functionality and their roles in cancer case-control studies. Results will be integrated with the SNP database. 3) To determine to what extent the predictive value of SNP functionality is mirrored in findings from molecular epidemiologic studies. Since most of these environmentally responsive genes are involved in cancer development, our hypothesis is that SNPs predicted to have significant impact on protein function are more likely to be associated with cancer risk in terms of odds ratios detected in previous case-control studies. Functional SNPs generated from this interdisciplinary approach will become publicly available. Findings from this study will enhance the use of SNPs in future phenotypic studies and molecular epidemiologic approaches to address questions related to gene-environment interaction in disease risk estimate.

描述（由申请人提供）：确定了数百万个单核苷酸多态性（SNP），现在非常需要优先考虑最有可能影响表型功能的潜在功能SNP，并最终导致疾病发展。该建议将通过关注负责环境反应的基因来探讨可用生物信息学方法在功能SNP选择中的应用。这些方法的有效性将通过文献搜索和经验确认进行评估。具体而言，该提案的目的是：1）使用从公共SNP数据库中收集的SNP识别大约700个环境响应基因的SNP，并通过可用的生物信息学工具进行筛选。将构建功能性SNP数据库。 2）。调查先前研究SNP功能及其在癌症病例对照研究中的作用的出版物。结果将与SNP数据库集成。 3）确定SNP功能的预测值在何种程度上反映了分子流行病学研究的发现。由于这些对环境响应的基因中的大多数都参与癌症发展，因此我们的假设是，SNP对蛋白质功能产生重大影响的SNP更有可能与先前病例对照研究中检测到的几率比率有关。从这种跨学科方法产生的功能SNP将公开可用。这项研究的结果将增强SNP在未来的表型研究中的使用和分子流行病学方法，以解决与疾病风险估计中与基因 - 环境相互作用有关的问题。