Genomic and Metabolomic Profiling of Finnish Familial Dyslipidemia Families

芬兰家族性血脂异常家族的基因组和代谢组学分析

基本信息

  • 批准号:
    8485662
  • 负责人:
  • 金额:
    $ 83.52万
  • 依托单位:
  • 依托单位国家:
    美国
  • 项目类别:
  • 财政年份:
    2012
  • 资助国家:
    美国
  • 起止时间:
    2012-06-15 至 2017-03-31
  • 项目状态:
    已结题

项目摘要

DESCRIPTION (provided by applicant): This proposal is to re-investigate, using metabolomic profiling and advanced genomics technologies, 92 Finnish pedigrees that were ascertained for two forms of complex heritable dyslipidemia: familial combined hyperlipidemia (FCHL) and low serum levels of high density lipoprotein cholesterol (HDL-C). These families were extensively phenotyped for metabolic measures and while linkage analyses yielded strong findings for FCHL and HDL-C in several chromosomal locations, identification of causal variants had been limited by the lack of sufficiently powerful technologies for both phenotypic and genotypic characterization. We now propose to re-analyze these families by obtaining new phenotypes hypothesized to more accurately reflect the biological underpinnings of dyslipidemias than the previously used composite lipid measures. The unique population structure of Finland provides special advantages for discovery of low frequency and rare disease- related variants in these families and opportunities for further validation of findings in several Finnish population cohorts In this project we will obtain metabolomic profiles on about 1400 members of these pedigrees. By combining whole genome sequencing (WGS) of the most genetically informative family members (about 300 individuals) with genome wide SNP genotyping of the entire pedigrees, we will establish a comprehensive catalog of variants segregating in these pedigrees. Phenotype-genotype correlations established by linkage and association analyses, along with bioinformatic analyses that detect likely deleterious variants, will enable us to identify the specific variants hat are candidates for contributing to the original and expanded set of metabolic phenotypes that we will obtain. Gene expression data to be obtained by RNA sequencing of blood samples from all available pedigree members (estimated to be about 900 individuals) will provide an additional form of evidence to prioritize candidate variants for metabolic phenotypes and may suggest relationships between genetic variation and gene function.
描述(由申请人提供):本提案旨在使用代谢组学分析和先进的基因组学技术重新研究92个芬兰家系,这些家系被确定为两种形式的复杂遗传性血脂异常:家族性混合型高脂血症(FCHL)和低血清高密度脂蛋白胆固醇(HDL-C)水平。这些家庭广泛的表型代谢措施,虽然连锁分析产生了强有力的发现FCHL和HDL-C在几个染色体位置,鉴定因果变异已有限的缺乏足够强大的技术,表型和基因型表征。我们现在建议通过获得新的表型来重新分析这些家族,这些表型假设比以前使用的复合脂质措施更准确地反映了血脂异常的生物学基础。芬兰独特的人口结构为在这些家族中发现低频率和罕见疾病相关的变异提供了特殊的优势,并为在几个芬兰人口队列中进一步验证发现提供了机会。在本项目中,我们将获得这些家系中约1400名成员的代谢组学谱。通过将遗传信息量最大的家族成员(约300个个体)的全基因组测序(WGS)与整个谱系的全基因组SNP基因分型相结合,我们将建立这些谱系中分离的变体的综合目录。通过连锁和关联分析建立的表型-基因型相关性,沿着检测可能有害变体的生物信息学分析,将使我们能够识别特定变体,这些特定变体是有助于我们将获得的原始和扩展代谢表型集的候选者。通过对所有可用谱系成员(估计约900个个体)的血液样本进行RNA测序获得的基因表达数据将提供额外形式的证据,以优先考虑代谢表型的候选变体,并可能表明遗传变异与基因功能之间的关系。

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)

数据更新时间:{{ journalArticles.updateTime }}

{{ item.title }}
{{ item.translation_title }}
  • DOI:
    {{ item.doi }}
  • 发表时间:
    {{ item.publish_year }}
  • 期刊:
  • 影响因子:
    {{ item.factor }}
  • 作者:
    {{ item.authors }}
  • 通讯作者:
    {{ item.author }}

数据更新时间:{{ journalArticles.updateTime }}

{{ item.title }}
  • 作者:
    {{ item.author }}

数据更新时间:{{ monograph.updateTime }}

{{ item.title }}
  • 作者:
    {{ item.author }}

数据更新时间:{{ sciAawards.updateTime }}

{{ item.title }}
  • 作者:
    {{ item.author }}

数据更新时间:{{ conferencePapers.updateTime }}

{{ item.title }}
  • 作者:
    {{ item.author }}

数据更新时间:{{ patent.updateTime }}

NELSON B. FREIMER其他文献

NELSON B. FREIMER的其他文献

{{ item.title }}
{{ item.translation_title }}
  • DOI:
    {{ item.doi }}
  • 发表时间:
    {{ item.publish_year }}
  • 期刊:
  • 影响因子:
    {{ item.factor }}
  • 作者:
    {{ item.authors }}
  • 通讯作者:
    {{ item.author }}

{{ truncateString('NELSON B. FREIMER', 18)}}的其他基金

A Latin American biobank for large-scale genetics research on severe mental illness
拉丁美洲生物库,用于严重精神疾病的大规模遗传学研究
  • 批准号:
    10386289
  • 财政年份:
    2021
  • 资助金额:
    $ 83.52万
  • 项目类别:
4/4 Powering Genetic Discovery for Severe Mental Illness in Latin American and African Ancestries
4/4 推动拉丁美洲和非洲血统中严重精神疾病的基因发现
  • 批准号:
    10263326
  • 财政年份:
    2020
  • 资助金额:
    $ 83.52万
  • 项目类别:
A Latin American biobank for large-scale genetics research on severe mental illness
拉丁美洲生物库,用于严重精神疾病的大规模遗传学研究
  • 批准号:
    10363749
  • 财政年份:
    2020
  • 资助金额:
    $ 83.52万
  • 项目类别:
4/4 Powering Genetic Discovery for Severe Mental Illness in Latin American and African Ancestries
4/4 推动拉丁美洲和非洲血统中严重精神疾病的基因发现
  • 批准号:
    10478253
  • 财政年份:
    2020
  • 资助金额:
    $ 83.52万
  • 项目类别:
4/4 Powering Genetic Discovery for Severe Mental Illness in Latin American and African Ancestries
4/4 推动拉丁美洲和非洲血统中严重精神疾病的基因发现
  • 批准号:
    10383005
  • 财政年份:
    2020
  • 资助金额:
    $ 83.52万
  • 项目类别:
Genetic Dissection in Pedigrees of Substance Use and Mood Disorders Comorbidity
药物使用和情绪障碍合并症谱系的基因剖析
  • 批准号:
    9062049
  • 财政年份:
    2015
  • 资助金额:
    $ 83.52万
  • 项目类别:
1/2 Genomic Strategies to Identify High-impact Psychiatric Risk Variants
1/2 识别高影响精神病风险变异的基因组策略
  • 批准号:
    8806391
  • 财政年份:
    2014
  • 资助金额:
    $ 83.52万
  • 项目类别:
Genome Sequencing in Extended Bipolar Pedigrees
扩展双相谱系的基因组测序
  • 批准号:
    8474847
  • 财政年份:
    2012
  • 资助金额:
    $ 83.52万
  • 项目类别:
Genome Sequencing in Extended Bipolar Pedigrees
扩展双相谱系的基因组测序
  • 批准号:
    8321412
  • 财政年份:
    2012
  • 资助金额:
    $ 83.52万
  • 项目类别:
Genomic and Metabolomic Profiling of Finnish Familial Dyslipidemia Families
芬兰家族性血脂异常家族的基因组和代谢组学分析
  • 批准号:
    8644877
  • 财政年份:
    2012
  • 资助金额:
    $ 83.52万
  • 项目类别:

相似海外基金

Collaborative Research: IIBR: Innovation: Bioinformatics: Linking Chemical and Biological Space: Deep Learning and Experimentation for Property-Controlled Molecule Generation
合作研究:IIBR:创新:生物信息学:连接化学和生物空间:属性控制分子生成的深度学习和实验
  • 批准号:
    2318829
  • 财政年份:
    2023
  • 资助金额:
    $ 83.52万
  • 项目类别:
    Continuing Grant
Analysis of biological small molecule mixtures using multiple modes of mass spectrometric fragmentation coupled with new bioinformatics workflows
使用多种质谱裂解模式结合新的生物信息学工作流程分析生物小分子混合物
  • 批准号:
    BB/X019802/1
  • 财政年份:
    2023
  • 资助金额:
    $ 83.52万
  • 项目类别:
    Research Grant
Collaborative Research: IIBR: Innovation: Bioinformatics: Linking Chemical and Biological Space: Deep Learning and Experimentation for Property-Controlled Molecule Generation
合作研究:IIBR:创新:生物信息学:连接化学和生物空间:属性控制分子生成的深度学习和实验
  • 批准号:
    2318830
  • 财政年份:
    2023
  • 资助金额:
    $ 83.52万
  • 项目类别:
    Continuing Grant
Collaborative Research: IIBR: Innovation: Bioinformatics: Linking Chemical and Biological Space: Deep Learning and Experimentation for Property-Controlled Molecule Generation
合作研究:IIBR:创新:生物信息学:连接化学和生物空间:属性控制分子生成的深度学习和实验
  • 批准号:
    2318831
  • 财政年份:
    2023
  • 资助金额:
    $ 83.52万
  • 项目类别:
    Continuing Grant
Bioinformatics-powered genetic characterization of the impact of biological systems on Alzheimer's disease and neurodegeneration
基于生物信息学的生物系统对阿尔茨海默病和神经退行性疾病影响的遗传表征
  • 批准号:
    484699
  • 财政年份:
    2022
  • 资助金额:
    $ 83.52万
  • 项目类别:
    Operating Grants
REU Site: Bioinformatics Research and Interdisciplinary Training Experience in Analysis and Interpretation of Information-Rich Biological Data Sets (REU-BRITE)
REU网站:信息丰富的生物数据集分析和解释的生物信息学研究和跨学科培训经验(REU-BRITE)
  • 批准号:
    1949968
  • 财政年份:
    2020
  • 资助金额:
    $ 83.52万
  • 项目类别:
    Standard Grant
REU Site: Bioinformatics Research and Interdisciplinary Training Experience in Analysis and Interpretation of Information-Rich Biological Data Sets (REU-BRITE)
REU网站:信息丰富的生物数据集分析和解释的生物信息学研究和跨学科培训经验(REU-BRITE)
  • 批准号:
    1559829
  • 财政年份:
    2016
  • 资助金额:
    $ 83.52万
  • 项目类别:
    Continuing Grant
Bioinformatics Tools to Design and Optimize Biological Sensor Systems
用于设计和优化生物传感器系统的生物信息学工具
  • 批准号:
    416848-2011
  • 财政年份:
    2011
  • 资助金额:
    $ 83.52万
  • 项目类别:
    University Undergraduate Student Research Awards
ABI Development: bioKepler: A Comprehensive Bioinformatics Scientific Workflow Module for Distributed Analysis of Large-Scale Biological Data
ABI 开发:bioKepler:用于大规模生物数据分布式分析的综合生物信息学科学工作流程模块
  • 批准号:
    1062565
  • 财政年份:
    2011
  • 资助金额:
    $ 83.52万
  • 项目类别:
    Continuing Grant
Bioinformatics-based hypothesis generation with biological validation for plant stress biology
基于生物信息学的假设生成和植物逆境生物学的生物验证
  • 批准号:
    261818-2006
  • 财政年份:
    2010
  • 资助金额:
    $ 83.52万
  • 项目类别:
    Discovery Grants Program - Individual
{{ showInfoDetail.title }}

作者:{{ showInfoDetail.author }}

知道了