LETTER TO JMG

Primary open angle glaucoma is associated with a specific p53 gene haplotype

T Ressiniotis^1,2, P G Griffiths¹, M Birch¹, S Keers², P F Chinnery²

¹ Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
² Department of Neurology, Medical School, The University of Newcastle upon Tyne, Newcastle upon Tyne, UK

Correspondence to:
Correspondence to:
P G Griffiths
FRCOphth, Senior Lecturer and Consultant Ophthalmologist, Royal Victoria Infirmary, Queen Victoria Road, Newcastle upon Tyne, NE1 4LP, UK; p.g.griffiths@ncl.ac.uk

Received 1 November 2003

Accepted 28 January 2004

Keywords: apoptosis; glaucoma; neurodegeneration

Abbreviations: PCR, polymerase chain reaction; POAG, primary open angle glaucoma

The first 150 words of the full text of this article appear below.

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 . . . [Full text of this article]

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• Skarie, J. M., Link, B. A. (2008). The Primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress-response pathway. Hum Mol Genet 17: 2474-2485 [Abstract] [Full Text]  
• Levkovitch-Verbin, H., Dardik, R., Vander, S., Nisgav, Y., Kalev-Landoy, M., Melamed, S. (2006). Experimental glaucoma and optic nerve transection induce simultaneous upregulation of proapoptotic and prosurvival genes.. IOVS 47: 2491-2497 [Abstract] [Full Text]  
• Dimasi, D P, Hewitt, A W, Green, C M, Mackey, D A, Craig, J E (2005). Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma. J. Med. Genet. 42: e55-e55 [Abstract] [Full Text]  
• (2004). Genetic analysis points to apoptotic mutation in glaucoma. Br J Ophthalmol 88: 981-981 [Full Text]