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NEIGHBORHOOD Consortium for POAG Genetics

POAG 遗传学 NEIGHBORHOOD 联盟

基本信息

批准号：
9173545
负责人：
Janey L Wiggs
金额：
$ 0.08万
依托单位：
MASSACHUSETTS EYE AND EAR INFIRMARY
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：
2012-08-01 至 2019-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9173545
关键词：
Affect Architecture Biological Process Biometry Blindness CRISPR/Cas technology Case-Control Studies Caucasians Clinical Clinical Data Code Collaborations Collection Complex Cornea Data Data Set Databases Diagnostic tests Disease Environment Etiology Event Funding Fundus Genes Genetic Genetic Translation Genetic Variation Genetic study Genomic Segment Genomics Genotype Glaucoma Goals Health Heritability Human Genetics International Intracranial Pressure Investigation Length Logistics Maintenance Measures Meta-Analysis Molecular National Eye Institute Neuropathy Optic Nerve Pathogenesis Pathway interactions Patients Phenotype Physiologic Intraocular Pressure Prevention strategy Prevention therapy Primary Open Angle Glaucoma Primary Prevention Public Health Publishing Research Research Infrastructure Research Personnel Resources Risk Factors Sample Size Subgroup Testing Thick Variant Visual Fields Zebrafish base case control clinical practice curative treatments digital disorder risk endophenotype exome gene discovery gene environment interaction gene interaction gene therapy genetic analysis genetic association genetic variant genome editing genome wide association study genome-wide analysis induced pluripotent stem cell interest member mouse genome new therapeutic target novel novel therapeutics optic nerve disorder rare variant screening trait

项目摘要

DESCRIPTION (provided by applicant): Primary open-angle glaucoma (POAG) is an intraocular pressure (IOP) related progressive optic neuropathy that ultimately leads to blindness. Permanent visual field loss from POAG is a condition of public health significance worldwide. The etiology of POAG is poorly understood and primary prevention is not possible. Current treatments can slow but do not cure this progressive neuropathy. The overall goal of our research is to elucidate the pathogenesis of primary open-angle glaucoma (POAG) making it possible to implement effective screening and prevention strategies and to develop novel therapies. POAG has significant heritability and recent genome-wide association studies, including our NEIGHBOR/GLAUGEN meta-analysis, have identified POAG-related genes. However, to comprehensively define the POAG complex genetic architecture large datasets with well-defined phenotypes are required. To achieve the sample size necessary for POAG gene discovery we formed the NEIGHBORHOOD consortium (NEIGHBOR Heritable Overall Operational Database) that includes harmonized genotype and phenotype data for 3,873 cases and 33,642 controls. During the prior funding period we have 1) developed infrastructure for the NEIGHBORHOOD consortium; 2) conducted analyses using the NEIGHBORHOOD data including: GWAS for POAG and the normal-tension subgroup (NTG), gene-phenotype studies, endophenotype genetic association studies, pathway analyses and functional assessment of rare coding variants in associated genes. The immediate goals of this competing renewal are: 1) Add new datasets that contribute cases and controls with clinical features of particular relevance and interest; 2) perform genetic analyses to identify new genes/genomic regions contributing to POAG and related subgroups and also to assess gene- gene interactions and molecular pathway contributions; 3) Explore gene-phenotype relationships for novel genes discovered through recent GWAS; and 4) continue to support the consortium resources and logistics. Additionally, this proposal will provide resources supporting studies investigating gene-environment interactions and molecular studies defining disease mechanisms relevant to POAG and NTG. Ultimately this information will form the basis of novel, and ideally neuro-protective, therapies.