The p53 Codon 72 PRO/PRO Genotype May Be Associated with Initial Central Visual Field Defects in Caucasians with Primary Open Angle Glaucoma

Authors

Janey L. Wiggs, Harvard University
Alex W. Hewitt, University of Melbourne
Bao J. Fan, Harvard University
Dan Y. Wang, Harvard University
Dayse R. Figueiredo Sena, Harvard University
Colm O'Brien, University College of Dublin
Anthony Realini, West Virginia University
Jamie E. Craig, Flinders University
David P. Dimasi, Flinders University
David A. Mackey, University of Western Australia
Jonathan L. Haines, Vanderbilt University
Louis R. Pasquale, Harvard University

Author ORCID Identifier

https://orcid.org/0000-0003-1890-3278

https://orcid.org/0000-0002-5123-5999

N/A

https://orcid.org/0000-0002-3515-4590

N/A

N/A

N/A

N/A

https://orcid.org/0000-0003-0878-8288

https://orcid.org/0000-0001-7914-4709

https://orcid.org/0000-0002-4351-4728

https://orcid.org/0000-0002-5835-3496

Document Type

Article

Publication Date

2013

College/Unit

School of Medicine

Department/Program/Center

Ophthalmology

Abstract

Background

Loss of vision in glaucoma is due to apoptotic retinal ganglion cell loss. While p53 modulates apoptosis, gene association studies between p53 variants and glaucoma have been inconsistent. In this study we evaluate the association between a p53 variant functionally known to influence apoptosis (codon 72 Pro/Arg) and the subset of primary open angle glaucoma (POAG) patients with early loss of central visual field.

Methods

Genotypes for the p53 codon 72 polymorphism (Pro/Arg) were obtained for 264 POAG patients and 400 controls from the U.S. and in replication studies for 308 POAG patients and 178 controls from Australia (GIST). The glaucoma patients were divided into two groups according to location of initial visual field defect (either paracentral or peripheral). All cases and controls were Caucasian with European ancestry.

Results

The p53-PRO/PRO genotype was more frequent in the U.S. POAG patients with early visual field defects in the paracentral regions compared with those in the peripheral regions or control group (p = 2.7×10−5). We replicated this finding in the GIST cohort (p  = 7.3×10−3, and in the pooled sample (p = 6.6×10−7) and in a meta-analysis of both the US and GIST datasets (1.3×10−6, OR 2.17 (1.58–2.98 for the PRO allele).

Conclusions

These results suggest that the p53 codon 72 PRO/PRO genotype is potentially associated with early paracentral visual field defects in primary open-angle glaucoma patients.

Digital Commons Citation

Wiggs, Janey L.; Hewitt, Alex W.; Fan, Bao J.; Wang, Dan Y.; Figueiredo Sena, Dayse R.; O'Brien, Colm; Realini, Anthony; Craig, Jamie E.; Dimasi, David P.; Mackey, David A.; Haines, Jonathan L.; and Pasquale, Louis R., "The p53 Codon 72 PRO/PRO Genotype May Be Associated with Initial Central Visual Field Defects in Caucasians with Primary Open Angle Glaucoma" (2013). Faculty & Staff Scholarship. 2688.
https://researchrepository.wvu.edu/faculty_publications/2688

Source Citation

Wiggs JL, Hewitt AW, Fan BJ, Wang DY, Figueiredo Sena DR, O’Brien C, et al. (2012) The p53 Codon 72 PRO/PRO Genotype May Be Associated with Initial Central Visual Field Defects in Caucasians with Primary Open Angle Glaucoma. PLoS ONE 7(9): e45613. https://doi.org/10.1371/journal.pone.0045613

Comments

© Wiggs et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.