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

D P Dimasi¹, A W Hewitt^1,2, C M Green², D A Mackey², J E Craig¹

¹ Department of Ophthalmology, Flinders University, Adelaide, Australia
² Centre for Eye Research, Royal Victorian Eye and Ear Hospital, Melbourne, Australia

Correspondence to:
Correspondence to:
Associate Professor Jamie Craig
Department of Ophthalmology, Flinders University, Flinders Drive, Bedford Park, South Australia 5042; jamie.craig{at}flinders.edu.au

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.

Abbreviations: GIST, glaucoma inheritance study, Tasmania; HTG, high tension glaucoma; NTG, normal tension glaucoma; OAG, open angle glaucoma

Keywords: glaucoma inheritance; Tasmania; normal tension glaucoma; primary open angle glaucoma; tumour-protein p53

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