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Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma


Dimasi, DP and Hewitt, AW and Green, CM and Mackey, DA and Craig, JE, Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma, Journal of Medical Genetics, 42, (9) pp. e55-e58. ISSN 0022-2593 (2005) [Refereed Article]

DOI: doi:10.1136/jmg.2005.032458


Background: The final common pathway for open angle glaucoma (OAG) is retinal ganglion cell apoptosis. Polymorphisms in p53, a major regulator of apoptosis, affect the efficiency of cell death induction. Association studies of p53 haplotypes and OAG have had conflicting results.

Objective: To examine the association between p53 haplotypes and OAG in a larger white population than in previous reports, and extend the analysis to normal tension glaucoma.

Methods: 345 unrelated people with OAG were recruited (283 subjects with high tension glaucoma and 62 with normal tension glaucoma) and compared with 178 age matched controls. Genomic DNA was analysed for the p53 codon 72 Arg/Pro polymorphism as well as for the presence or absence of a 16 bp intron 3 insertion.

Results: In this white cohort no association was found between glaucoma (high or normal tension) and either sequence variant or haplotype.

Conclusions: The p53 codon 72 Arg/Pro polymorphism is not associated with age of onset or severity of glaucoma.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:37149
Year Published:2005
Web of Science® Times Cited:19
Deposited By:Medicine
Deposited On:2005-08-01
Last Modified:2014-10-07

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