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M. J. Silva, J. Silva Paula, N. Saloum Deghaide, M. Vargas, E. Castelli, E. Donadi, M. Veronese Rodrigues; Association of TP53 Codon 72 Polymorphism With Primary Angle Closure Glaucoma in Brazilian Patients. Invest. Ophthalmol. Vis. Sci. 2010;51(13):2181.
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A total of 47 unrelated PACG patients, with at least one documented acute angle closure episode treated in the last five years, and 72 unrelated healthy matched controls were studied. PACG was defined based on findings of an occludable angle, signs of trabecular obstruction by the peripheral iris, elevated intraocular pressure (IOP>21 mmHg, without medications), glaucomatous changes in the optic nerve head and in the visual field test. The p53 codon 72 Arg-Pro (CGC to CCC) polymorphism of exon 4 was studied through polymerase chain reaction amplification followed by restriction digestion and sequence analysis.
Significant differences in the distribution of the TP53 polymorphism between the control subjects and the PACG patients were observed (p = 0.0317). The proline form of TP53 gene codon 72 appears to be an important risk factor in the development of PACG (odds ratio: 1.877, 95% confidence interval: 1.075 to 3.279).
Our results suggest a potential association between TP53 gene encoding for proline at codon 72 and PACG in Brazilian patients. Further studies may be able to clarify the role of TP53 gene as a regulator of retinal ganglion cells apoptosis in PACG.Keywords: p53 codon, polymorphism, angle closure glaucoma.
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