# Primary Open Angle African-American Glaucoma Genetics Study Renewal

> **NIH NIH R01** · UNIVERSITY OF PENNSYLVANIA · 2021 · $993,800

## Abstract

Summary Statement
Primary open-angle glaucoma (POAG) represents a pressing public health problem in
African Americans. This disease is the leading cause of irreversible blindness in these
individuals. POAG affects African Americans more severely at earlier ages, contributing
to younger generations with vision loss and adverse health and economic outcomes.
Current pressure-lowering treatments for the disease have mixed success, with
approximately 30% of patients still experiencing vision loss. POAG is a familial disease
and there is a need for large genetic studies that elucidate disease mechanisms. This
need is especially pronounced in African Americans, who, despite their increased
burden of disease, remain seriously understudied. In its initial funding phase, the
Primary Open-Angle African American Glaucoma Genetics (POAAGG) study addressed
this disparity by conducting the largest-ever POAG genetics study on African Americans
recruited from a single city. For this renewal, we will study genetic data from a genome-
wide association study of 7765 subjects and whole-exome sequencing of 8082 subjects,
as well as rich phenotypic data on >90% of POAG cases. The proposed renewal will
allow us to further investigate and identify variants of biologic importance to African
American POAG. The aims of this study are: 1) to conduct post-GWAS analyses on
genome-wide significant variants from the POAAGG study to elucidate their role in this
disease, 2) to identify additional regions of interest for African American POAG through
whole-exome and structural genomics analyses, and 3) to evaluate the functional
impact of regions of interest in cellular model systems. Our findings will begin to define
relevant biologic pathways for African American POAG, which can potentially provide
targets for population screening and precision therapeutics.

## Key facts

- **NIH application ID:** 10120790
- **Project number:** 2R01EY023557-06
- **Recipient organization:** UNIVERSITY OF PENNSYLVANIA
- **Principal Investigator:** JOAN M O'BRIEN
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $993,800
- **Award type:** 2
- **Project period:** 2014-04-01 → 2026-03-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10120790

## Citation

> US National Institutes of Health, RePORTER application 10120790, Primary Open Angle African-American Glaucoma Genetics Study Renewal (2R01EY023557-06). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10120790. Licensed CC0.

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