The international 1q type 2 diabetes consortium
国际1q 2型糖尿病联盟
基本信息
- 批准号:7192489
- 负责人:
- 金额:$ 138.08万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2006
- 资助国家:美国
- 起止时间:2006-03-01 至 2011-02-28
- 项目状态:已结题
- 来源:
- 关键词:1q21AdoptedAfricanAfrican AmericanAllyAsiaAsiansBioinformaticsBiologicalBoxingChromosome MappingChromosomesClassificationClinicalClinical ManagementConditionCredentialingDNADNA ResequencingDataData AnalysesDevelopmentDiabetes MellitusDiagnosticDiseaseEnsureEthnic groupEuropeEuropeanEvaluationEventFigs - dietaryFundingFutureGenesGenetic Predisposition to DiseaseGenome ScanGenomicsGenotypeHumanIndividualInformaticsInternationalKnowledgeLinkLinkage DisequilibriumLinkage Disequilibrium MappingMolecularNational Institute of Diabetes and Digestive and Kidney DiseasesNative AmericansNon-Insulin-Dependent Diabetes MellitusNorth AmericaOutputPopulationPositioning AttributePredispositionRangeResearchResearch PersonnelResourcesSamplingScanningSequence AnalysisSignal TransductionSurveysSusceptibility GeneTestingTherapeuticTimeTranscriptVariantWorkattenuationbaseconditioningdata integrationdensitydesignfollow-upgenotyping technologyimprovedinterestmembermultidisciplinaryprogramsstatisticstool
项目摘要
DESCRIPTION (provided by applicant): The objective of the research in this application is to identify diabetes-susceptibility genes mapping to chromosome 1q. A 25Mb region of chromosome 1q21-25 has been targeted since it contains an extremely well-replicated type 2 diabetes linkage signal, now detected in scans performed in a range of populations including those of European, East Asian, Native American and African American origin. The hypothesis to be tested is that this replicated linkage reflects the action of one or more susceptibility genes capable of influencing the inherited predisposition to type 2 diabetes in multiple ethnic groups. The strategy to be adopted combines systematic, high-density linkage disequilibrium mapping with exhaustive examination of selected positional candidates. The proposal comes from a unique international consortium that allies clinical and basic investigators representing populations with the strongest evidence for 1q linkage with expertise in high-throughput genomics, informatics and statistics from leading groups in the International HapMap project. This consortium is therefore powerfully-placed to apply the latest developments in genotyping technology, informatics and the understanding of human sequence variation to analysis of unparalleled clinical resources. Analysis of preliminary data from 3000 1q SNPs typed for over 4000 samples has already identified several genes showing replicated associations with diabetes. Our specific aims are: 1. to complete the indirect linkage disequilibrium survey of the entire 1q region of interest through a final round of genotyping designed to ensure comprehensive capture of the effects of common variation; 2. to follow up the association signals detected through analysis of further SNPs and larger clinical samples; 3. to integrate the association data obtained in its biological context through development of dedicated informatics tools, and to use these tools to enable a systematic evaluation of the biological candidacy of regional transcripts and to support a search for polymorphic duplications; 4. to undertake direct, comprehensive analysis of the genes so identified to characterize etiological variants. Identification of the specific variant(s) responsible for the linkage signal will enhance our understanding of the fundamental molecular events involved in the development of type 2 diabetes. This information will contribute to future diagnostic and therapeutic advances in the clinical management of this condition.
描述(由申请人提供):本申请研究的目的是鉴定定位于染色体1 q的糖尿病易感基因。染色体1 q21 -25的25 Mb区域已被靶向,因为它包含一个非常好复制的2型糖尿病连锁信号,现在在一系列人群中进行的扫描中检测到,包括欧洲,东亚,美洲原住民和非洲裔美国人。有待检验的假设是,这种重复的连锁反应反映了一个或多个易感基因的作用,这些基因能够影响多个种族群体中2型糖尿病的遗传易感性。将采用的战略相结合的系统,高密度连锁不平衡映射与详尽的审查选定的位置候选人。该提案来自一个独特的国际联盟,该联盟将临床和基础研究人员与国际HapMap项目领导小组的高通量基因组学,信息学和统计学专业知识结合起来,这些研究人员代表了1 q联系的最有力证据。因此,这个联盟是有力的,适用于基因分型技术,信息学和人类序列变异的理解,无与伦比的临床资源分析的最新发展。对4000多个样本的3000个1 q SNP的初步数据进行分析,已经确定了几个与糖尿病相关的基因。我们的具体目标是:1.通过最后一轮基因分型完成整个1 q感兴趣区域的间接连锁不平衡调查,以确保全面捕获常见变异的影响; 2.通过进一步的SNP分析和更大的临床样本来跟踪检测到的关联信号; 3.通过开发专用的信息学工具,整合在其生物学背景下获得的关联数据,并使用这些工具系统评价区域转录本的生物学候选性,并支持多态性重复的搜索; 4.对如此鉴定的基因进行直接、全面的分析,以表征病因学变体。鉴定负责连锁信号的特定变异将增强我们对2型糖尿病发展中所涉及的基本分子事件的理解。这一信息将有助于未来的诊断和治疗进展,在这种情况下的临床管理。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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Mark Ian McCarthy其他文献
Mark Ian McCarthy的其他文献
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{{ truncateString('Mark Ian McCarthy', 18)}}的其他基金
Integrating genome-scale data to reveal causal mechanisms in type 2 diabetes
整合基因组规模数据揭示 2 型糖尿病的因果机制
- 批准号:
8892289 - 财政年份:2015
- 资助金额:
$ 138.08万 - 项目类别:
Integrating genome-scale data to reveal causal mechanisms in type 2 diabetes
整合基因组规模数据揭示 2 型糖尿病的因果机制
- 批准号:
9054840 - 财政年份:2015
- 资助金额:
$ 138.08万 - 项目类别:
The international 1q type 2 diabetes consortium
国际1q 2型糖尿病联盟
- 批准号:
7373650 - 财政年份:2006
- 资助金额:
$ 138.08万 - 项目类别:
The international 1q type 2 diabetes consortium
国际1q 2型糖尿病联盟
- 批准号:
7575177 - 财政年份:2006
- 资助金额:
$ 138.08万 - 项目类别:
The international 1q type 2 diabetes consortium
国际1q 2型糖尿病联盟
- 批准号:
7020865 - 财政年份:2006
- 资助金额:
$ 138.08万 - 项目类别:
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