Primary open angle glaucoma was not found to be associated with p53 codon 72 polymorphism in a Brazilian cohort

Abstract

ABSTRACT. Primary open angle glaucoma (POAG) is the most common type of glaucoma. The p53 codon 72 Arg-Pro (CGC to CCC) polymorphism of exon 4 affects various biological properties; recently, it was reported that this polymorphism affects the ability to induce apoptosis in vitro. Various genotypes have been found to be significantly associated with POAG. We examined the distribution of this polymorphism in 104 unrelated POAG patients and in 58 normal healthy individuals without history of POAG at the Pronto Clínica de Olhos in Goiânia, Brazil. The controls were recruited among individuals undergoing ophthalmological examination. Their genomic DNA was analyzed for p53 gene codon 72 polymorphism by polymerase chain reaction. The Arg72 allele was more common than the Pro72 allele in both groups. There was no significant difference in the distribution of the codon 72 polymorphism between groups (P = 0.3311). The genotype distribution in the POAG group was 23.07 Arg homozygote, 75 heterozygote, and 1.93% Pro homozygote, while in the control group it was 31.04 Arg homozygote, 68.96 heterozygote, and 0% Pro homozygote. We concluded that the p53 codon 72 Arg/Pro polymorphism is not associated with glaucoma in Brazilian patients.

Association between primary open angle glaucoma and genetic polymorphisms GSTM1/GSTT1 in patients from Goiânia Central-West Region of Brazil

“…We previously studied the current group of patients and controls and found no association between the polymorphism p53 codon 72 (ARG/PRO) and POAG (Silva et al, 2009). Costa (2012) observed a statistically significant association (P < 0.0001) between the CYP1A1m1 polymorphism and and POAG.…”

Association of TP53 Polymorphisms with Primary Open-Angle Glaucoma: A Meta-Analysis

“…Similarly, one study's distribution of the genotypes in the control group was not in HWE. 42 For the meta-analysis of TP53 codon 72, four studies on Caucasians, 40,41,43,44 four studies on Asians, 37,38,42,45 and one study on Brazilians were included. 44 Also four studies [40][41][42]45 on HTG and NTG were included in the meta-analysis of p53 codon 72.…”

“…[37][38][39][40][41][42][43][44][45] The flow chart of literature search is shown in Figure 1. Nine studies [37][38][39][40][41][42][43][44][45] were included in the meta-analysis of p53 codon 72 genotype (1930 cases, 1463 controls), of which, in two studies, 43,44 the distribution of the genotypes in the control group were not in HWE (Fisher's exact test, P < 0.05). Four case-control studies [38][39][40]42 were included in the meta-analysis of intron 3 16-bp insertion genotype (858 cases, 683 controls).…”

“…However, the association between such polymorphisms in p53 and POAG remains controversial according to previous reports. [38][39][40][41][42][43][44] To date, no meta-analysis has been conducted to elevate the association of the polymorphisms of TP53 with POAG. Thus, it stimulated us to conduct a meta-analysis based on a total of nine independent studies, which may provide the evidence for the association of p53 polymorphisms with POAG susceptibility.…”

Association between CYP1A1m1 gene polymorphism and primary open-angle glaucoma

“…Mutations in CYP1B1 (2p22-p21, the GLC3A locus) are likely to cause juvenile primary open-angle glaucoma or risk factors for the disease (Rezaie et al, 2002). Silva et al (2009) found no association between the codon 72 polymorphism in the Tp53 gene and POAG, but some studies have identified differences (Lin et al, 2002). In 2012, Silva (unpublished data) noted a statistically significant relationship between POAG and the GSTM1 null polymorphism, but no significant relationship was found between these factors.…”