The Association Of Tp53 Gene (codon 52) Gene Polymorphisms With Susceptibility To Acute Primary Angle Closure Glaucoma In Brazilian Patients

Abstract

Purpose: : TP53 is one of the key regulators of apoptosis, and polymorphisms in its codon 72 have been investigated in order to determine association with several diseases, including glaucoma. Codon 72 may encode for arginine (CGC-Arg) or proline (CCC-Pro), due to the presence of a single nucleotide polymorphism at the second base pair. The purposes of this study were: (1) to determine the allelic and genotypic polymorphism of the TP53 gene (codon 72) in Brazilian patients with primary angle closure glaucoma (PACG) and in healthy controls and (2) verify the allelic association (Proline and Arginine) of TP53 (codon 72) in PACG patients with and without history of acute crisis for pupillary block.

Methods: : A total of 66 unrelated PACG patients (47 with a history of acute crisis and 19 with no history of crisis PACG acute) and 72 unrelated healthy matched controls were studied. DNA was amplified by polymerase chain reaction. The exon 4 region of gene TP53 was amplified and digested with the restriction enzyme BseDI (restriction fragment length polymorphism). Statistical analysis of genetic associations was performed by chi-square with Yates correction or by two-tailed Fisher exact test when necessary.

Results: : (1) No significant difference was observed in genotype frequency for the polymorphisms (PRO / PRO, ARG / ARG and ARG / PRO) of the p53 gene between PACG and control groups (p = 0.3984). (2) The frequency of the alleles ARG and PRO was significant different between the PACG groups with and without acute crisis (p = 0.0251/ OR = 2,9).

Conclusions: : These results may suggest a potential role for p53 in PACG with a history of acute glaucoma.

Keywords: genetics • gene/expression • anatomy