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Updated: Jun 20, 2026
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Primary open angle glaucoma in a Caucasian population is associated with the p53 codon 72 polymorphism
Christopher L Daugherty1, Hilda Curtis, Tony Realini
1Department of Ophthalmology, West Virginia University, Morgantown, WV 26506, USA.
Molecular Vision
|September 29, 2009
Summary
The p53 gene
Area of Science:
- Genetics
- Ophthalmology
- Neuroscience
Background:
- Primary open-angle glaucoma (POAG) involves retinal ganglion cell death via apoptosis.
- The p53 gene's Arg72Pro polymorphism has been inconsistently linked to POAG risk.
- Understanding genetic factors in POAG is crucial for neuroprotection.
Purpose of the Study:
- To investigate the association between p53 polymorphisms and POAG susceptibility in US Caucasians.
- Specifically examine the Arg72Pro polymorphism (rs1042522) in relation to POAG risk.
Main Methods:
- Genotyping of 191 POAG patients and 167 controls for p53 polymorphisms (rs1042522, rs17878362, rs1800371).
- Utilized PCR amplification, restriction digestion, and sequence analysis for genotyping.
- Statistical analysis included chi-squared tests to compare genotypic frequencies.
Main Results:
- A significant difference in rs1042522 (Arg72Pro) genotypic frequencies was observed between POAG patients and controls (p=0.008).
- Homozygosity for the arginine allele at rs1042522 conferred a 1.9-fold increased risk of POAG (p=0.01).
- The arginine allele frequency was higher in normal-tension glaucoma (NTG) compared to high-tension POAG.
Conclusions:
- The arginine variant of rs1042522 in the p53 gene is associated with an increased risk of POAG.
- This p53 variant may enhance apoptotic potential, increasing retinal ganglion cell susceptibility.
- Suggests a genetic predisposition to POAG linked to p53's role in apoptosis.
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