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More Complete Assessment of DNA Variation in Age-Related Macular Degeneration

更全面地评估年龄相关性黄斑变性中的 DNA 变异

基本信息

批准号：
8324528
负责人：
Goncalo Abecasis
金额：
$ 118.78万
依托单位：
UNIVERSITY OF MICHIGAN AT ANN ARBOR
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-09-01 至 2015-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8324528
关键词：
Accounting Affect Age Age related macular degeneration Biological Biology Biometry Blindness Cataloging Catalogs Cataract Clinical Code Collaborations Complex Computing Methodologies Copy Number Polymorphism DNA DNA Resequencing DNA Sequence DNA Sequence Analysis Data Data Analyses Deposition Development Disease Disease Outcome Disease susceptibility Early Diagnosis Elderly Ensure Frequencies Genes Genetic Genetic Polymorphism Genetic Variation Genome Genome Scan Genomics Genotype Individual Knowledge Lead Macular degeneration Methods Michigan Molecular Neurodegenerative Disorders Ophthalmology Pathogenesis Pennsylvania Population Predisposition Quality of life Research Research Personnel Role Scientist Single Nucleotide Polymorphism Statistical Methods TIMP3 gene Technology United States Universities Variant analytical tool chemotactic factor inactivator complement pathway design disorder prevention disorder risk exome genetic variant genome sequencing genome wide association study genotyping technology improved insertion/deletion mutation insight next generation repository therapy development tool trait

项目摘要

This proposal builds on active and productive collaboration between scientists at the University of Michigan and at the University of Pennsylvania. The research team has made several contributions both to our understanding of the genetics of macular degeneration and to the array of statistical methods and analytical tools available for genomic studies of macular degeneration and other disorders. Age-related macular degeneration (AMD) is a progressive neurodegenerative disease and the major cause of blindness among the elderly. Loss of vision caused by macular degeneration is currently irreversible. In the past several years, great progress has been made in our understanding of the molecular mechanisms that lead to macular degeneration through SNP genotyping studies, which focus on an easily accessible class of common DNA sequence variants. Here, we propose to use advances in DNA sequencing and genotyping technology to more systematically evaluate the role of DNA sequence variation in susceptibility to age related macular degeneration. Our research team includes not only clinical expertise and understanding of macular degeneration but also expertise in high-throughput genetics and genomics and in the development and application of cutting edge statistical and computational methods. Through a combination of deep exome resequencing and low pass whole genome sequencing we propose to characterize genetic variation in 3,000 individuals and evaluate the contribution of >20M genetic variants to disease susceptibility, including not only common SNPs, but also rare SNPs, short insertion deletion polymorphisms, and larger copy number variants. Our approach should yield new susceptibility loci for macular degeneration and improve our understanding of the molecular mechanisms that contribute to disease susceptibility in previously implicated loci.

这项提议建立在密歇根大学科学家之间积极而富有成效的合作基础上