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

journal contribution
posted on 2023-05-16, 17:17 authored by Dimasi, DP, Alexander HewittAlexander Hewitt, Green, CM, David MackeyDavid Mackey, Craig, JE

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.

History

Publication title

Journal of Medical Genetics

Volume

42

Issue

9

Pagination

e55-e58

ISSN

0022-2593

Department/School

Tasmanian School of Medicine

Publisher

BMJ Group

Place of publication

England

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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