The p53 codon 72 PRO/PRO genotype may be associated with initial central visual field defects in caucasians with primary open angle glaucoma

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 (codo...

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Published in:	PloS one Vol. 7; no. 9; p. e45613
Main Authors:	Wiggs, Janey L, Hewitt, Alex W, Fan, Bao Jian, Wang, Dan Yi, Figueiredo Sena, Dayse R, O'Brien, Colm, Realini, Anthony, Craig, Jamie E, Dimasi, David P, Mackey, David A, Haines, Jonathan L, Pasquale, Louis R
Format:	Journal Article
Language:	English
Published:	United States Public Library of Science 26-09-2012 Public Library of Science (PLoS)
Subjects:	Adolescent Adult Aged Aged, 80 and over Apoptosis Asian Americans Biology Care and treatment Case-Control Studies Cell cycle Codon Cohort Studies Defects European Continental Ancestry Group - genetics Female Gene expression Gene polymorphism Genetic polymorphisms Genotype Genotypes Glaucoma Glaucoma, Open-Angle - genetics Hospitals Humans Male Medical schools Medicine Middle Aged Optic nerve p53 Protein Patients Polymorphism Population Proline - genetics Proteins Retina Risk factors Scotoma - genetics Senescence Studies Tumor Suppressor Protein p53 - metabolism Visual field Visual Fields White people Australia United States > US Massachusetts
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Summary:	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. 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. 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). 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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 Conceived and designed the experiments: JLW LRP. Performed the experiments: BJF DYW AWH DRFS DPD. Analyzed the data: BJF AWH JLH. Contributed reagents/materials/analysis tools: CO AR JEC DAM LRP JLW. Wrote the paper: JLW LRP JLH DAM AWH. Competing Interests: The authors have declared that no competing interests exist.
ISSN:	1932-6203 1932-6203
DOI:	10.1371/journal.pone.0045613