Association between p53 codon 72 (Arg72Pro) polymorphism and primary open-angle glaucoma in Iranian patients

Area of Science:

• Genetics
• Ophthalmology
• Molecular Biology

Background:

• Glaucomatous neuropathy involves apoptosis, a cell death process regulated by genes like p53.
• The p53 gene's codon 72 polymorphism has been linked to primary open-angle glaucoma (POAG) in some populations.
• This study investigates the p53 codon 72 polymorphism in Iranian POAG patients for the first time.

Purpose of the Study:

• To analyze the association between p53 codon 72 polymorphism and POAG in an Iranian cohort.
• To determine if specific p53 genotypes or alleles increase POAG risk in this population.

Main Methods:

• A cohort of 65 unrelated POAG patients and 65 unrelated healthy controls from Iran were studied.
• Polymerase chain reaction (PCR) was used to amplify the p53 gene's exon 4.
• BstUI restriction enzyme digestion identified p53 codon 72 alleles (Pro72Arg).

Main Results:

• Significant differences in allele and genotype frequencies of p53 Pro72Arg were observed between POAG patients and controls.
• The Pro allele (OR = 2.1) and Pro/Pro genotype (OR = 3.9) were associated with an increased risk of POAG.
• The p53 Pro72 allele was significantly more frequent in Iranian POAG patients (P<0.05).

Conclusions:

• The p53 Pro72 allele is more prevalent in Iranian POAG patients.
• Individuals with the Pro/Pro genotype may be predisposed to developing POAG.
• Further research is needed to confirm this genetic association with POAG.