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Distributions of p53 codon 72 polymorphism in primary open angle glaucoma
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  1. H-J Lin1,
  2. W-C Chen2,
  3. F-J Tsai2,
  4. S-W Tsai3
  1. 1Department of Ophthalmology, China Medical College, Taiwain, ROC
  2. 2Department of Medical Genetics and Pediatrics, China Medical College Hospital, Taiwain, ROC
  3. 3Department of Occupational Safety and Health and Institute of Environmental Medicine, China Medical College, Taiwain, ROC
  1. Correspondence to: Fuu-Jen Tsai, MD, PhD, Department of Medical Genetics and Pediatrics, China Medical College Hospital. No 2, Yuh-Der Road, Taichung, 404 Taiwain, ROC; d0704@www.cmch.org.tw

Abstract

Background: Glaucomatous neuropathy is a type of cell death by apoptosis. The p53 gene is one of the regulatory genes of apoptosis. Recently, p53 codon 72 polymorphism has been extensively studied to determine the risk factors responsible for many diseases. In the p53 gene, a single base change from G to C causes the alternation of amino acid residue 72 from arginine to proline. In this study the association between p53 codon 72 polymorphism and primary open angle glaucoma (POAG) patients was evaluated.

Methods: 58 POAG patients and 59 healthy volunteers were enrolled in this study. Polymerase chain reaction based analysis was used to resolve the p53 codon 72 polymorphism.

Results: There were significant differences in the distribution of the polymorphism between the control subjects and the POAG patients (p = 0.00782) The proline form of p53 gene codon 72 appears to be a significant risk factor in the development of POAG (odds ratio 2.389, 95% confidence interval: 1.14 to 5.01).

Conclusions: Retinal ganglion cells die during POAG by apoptosis. The tumour suppressor protein, p53, is one of the primary regulators steps of apoptosis, and the results of our study are compatible with this concept.

  • p53 codon
  • polymorphism
  • primary open angle glaucoma
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