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Primary open angle glaucoma is associated with a specific p53 gene haplotype
  1. T Ressiniotis1,2,
  2. P G Griffiths1,
  3. M Birch1,
  4. S Keers2,
  5. P F Chinnery2
  1. 1Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
  2. 2Department of Neurology, Medical School, The University of Newcastle upon Tyne, Newcastle upon Tyne, UK
  1. Correspondence to:
 P G Griffiths
 FRCOphth, Senior Lecturer and Consultant Ophthalmologist, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK;

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Primary open angle glaucoma (POAG) is the second commonest cause of blind registration in the United Kingdom and affects approximately 70 million people worldwide.1,2 The major risk factors are intraocular pressure, ethnicity, refractive errors, and vascular function. There is also clear evidence from population, case control, and twin studies of a heritable element to POAG.3,4 The genes encoding myocilin and optineurin have been be linked to POAG in large families with autosomal dominant inheritance, and a number of chromosomal loci are being studied for a possible genetic association with glaucoma.5–10 It appears that POAG is a complex trait and multiple genes contribute to the phenotype and increase individuals’ susceptibility to glaucomatous optic neuropathy.

Quite independently, a number of recent studies suggest that apoptosis of the retinal ganglion cells is an important mechanism behind glaucoma.11,12 Apoptosis is a form of genetically controlled, programmed cell death, which is under extensive research, especially in cancer,13–15 neuronal injury,16 and neurodegenerative disorders.17,18 During the primary regulatory steps of apoptosis, a signal of cellular distress activates the tumour suppressor protein p53. This protein acts like a “guardian of the genome”, regulating subsequent apoptotic events through several oncogenes, principally bax and bcl-2.13 Further apoptotic events include changes in mitochondria with cytochrome c release and activation of cystein proteases (caspases), which digest the dying cell from within.19

It is therefore of great interest that one study showed an association between genetic polymorphic variants of the p53 gene and POAG. In a Chinese study, a cytosine (C) residue at codon 72 of the p53 gene was significantly more common in POAG patients than control subjects.20 In another study carried out on an Indian cohort, a second polymorphism (a 16 bp duplication in …

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  • This study was funded by educational grants from Pharmacia and Special Trustees of the Newcastle upon Tyne Hospitals NHS Trust, UK.

  • Conflict of interest: none declared.

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