阿尔茨海默病遗传学联盟-猫眼课题宝

阿尔茨海默病遗传学联盟

批准号：

8888758

负责人：

GERARD DAVID SCHELLENBERG

金额：

$430.88万

依托单位：

UNIVERSITY OF PENNSYLVANIA

依托单位国家：

美国

项目类别：

财政年份：

2009

资助国家：

美国

项目状态：

已结题

起止时间：

2009-04-01 至 2020-03-31

来源：

https://reporter.nih.gov/project-details/8888758

关键词：

Affect African American Alzheimer&apos s Disease Alzheimer&apos s disease risk Amyloid beta-Protein Precursor Architecture Asians Base Sequence Bioinformatics Biological Assay Caribbean region Caucasians Chromosomal Rearrangement Chromosome Mapping Chromosomes Code Computer Simulation Copy Number Polymorphism Cost of Illness DNA DNA Sequence Data Data Storage and Retrieval Disease Disease Progression Elderly Elements Ethnic group Funding Future Generations Genes Genetic Genetic Risk Genetic study Genome Genomics Genotype Goals Haplotypes Hispanics International Knowledge Late Onset Alzheimer Disease Latino Methods Minority Modeling Molecular Conformation Not Hispanic or Latino Nucleotides Pathogenesis Pathway interactions Phenotype Population Population Heterogeneity Prevention therapy Quality Control Regulatory Element Reporter Resources Risk Sequence Analysis Signal Transduction Systems Biology Testing Variant Work base beta-site APP cleaving enzyme 1 cohort cost data management density design disease phenotype exome sequencing follow-up functional genomics gene discovery genetic risk factor genetic variant genome analysis genome sequencing genome wide association study genome-wide insertion/deletion mutation new therapeutic target next generation sequencing non-genetic novel phenome presenilin-1 prevent promoter public health relevance rare variant risk variant secretase targeted sequencing therapeutic target

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DESCRIPTION (provided by applicant): This proposal describes future work of the Alzheimer's Disease Genetics Consortium (ADGC). The goal is to deconstruct the complete genetic architecture of Alzheimer's disease (AD), and to determine how all inherited factors contribute to the AD phenotype. To this end we will identify, annotate, replicate, and validate all DNA variants that increase risk or protect against AD, determine what genes are connected to these variants, and evaluate the contribution of each to total AD risk. The rationale for the following genetics/genomics project is to: 1) Predict who will develop AD. 2) Fully reveal all AD genetics in all ethnic groups. 3) Understand the pathogenesis of AD. 4) Identify novel therapeutic targets for AD. Therefore, we will identify new genes/therapeutic targets for AD using methods that make use of data from not only genotyping arrays but also massively parallel DNA sequence approaches. Because much of what we know about AD genetics comes from Caucasians AD studies, we will focus future analysis on not only Caucasians but also on African Americans, Latinos, and Asians. To resolve AD genetics, we will: in AIM 1, use functional genomics to identify AD risk and protective variants in cis- acting regulatory elements, and identifying the genes affected by these CREs; in AIM 2, we will use in silico systems biology approaches to integrate information from all AD genes to identify interaction networks and pathways relevant to AD; in AIM 3, we will identify additional AD rare-variant genes using gene-based (including CREs) analyses. All ethnic groups will be analyzed by these methods; in AIM 4, we will perform whole exome sequencing on African American subjects to generalize findings made on Caucasians, to refine gene localization, to identify novel variants, and to identify novel genes found only in other ethnic groups. This will be followed up by targeted sequencing in African Americans and Latinos; in AIM 5 we will assemble and harmonize phenotypes available in multiple cohorts to identify subtypes of AD and genes associated with variants associated with those subtypes.

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