Author/Authors :
Derakhshan, Akbar Eye research center - Mashhad University of Medical Sciences, Iran , Sadeghi Allah Abadi, Javad Eye research center - Mashhad University of Medical Sciences, Iran , Tavakkol-Afshari, Jalil Department of allergy and immunology - school of medicine - Mashhad University of Medical Sciences, Iran , Nikpoor, Amin Reza Department of Immunology - Faculty of Medicine - Hormozgan University of Medical Sciences, Bandar Abbas, Iran , Daneshvar, Ramin Eye research center - Mashhad University of Medical Sciences, Iran , Shokoohi Rad, Saeed Eye research center - Mashhad University of Medical Sciences, Iran , Ansari-Astaneh, Mohammad-Reza Eye research center - Mashhad University of Medical Sciences, Iran , Ghafarian, Sadegh Eye research center - Mashhad University of Medical Sciences, Iran
Abstract :
Background:Glaucoma is one of the main causes of irreversible blindness. The most common type of
glaucoma is primary open angle glaucoma (POAG). TGF-β2, the main TGF-β isoform in the eye, is critical for
extracellular matrix production and angiogenesis. Genetic studies have shown that TGF-β2 gene (TGFB2)
polymorphisms affect its expression in the eye. The aim of this study was to investigate the presence of the
TGFB2 rs991967 polymorphism in POAG, and the effect of this polymorphism on clinical characteristics in
POAG patients.
Methods: This case-control study was conducted on 112 control participants and 112 POAG patients referred
to Khatam-Al-Anbia Eye Hospital, Mashhad, Iran. The TGFB2 rs991967 polymorphism was genotyped by the
PCR-restriction fragment length polymorphism (PCR-RFLP) method. The genotyping results and clinical
findings were analyzed using SPSS version 16.
Results:The most common genotype was AA, observed in 54.5% of the patients (P < 0.0001, or 12.2, CI
95% for OR: 5.25 to 28.31). Moreover, the highest and lowest frequencies of the mutant A allele were seen in
the patient and control groups with percentages of 73 and 40%, respectively. This difference was significant (P
< 0.0001, OR: 3.9, CI 95% for OR: 2.6 to 5.9). No significant association was seen between the frequencies of
the TGFB2 rs991967 polymorphism genotypes and clinical characteristics in POAG patients.
Conclusions: The TGFB2 rs991967 polymorphism has a direct and significant association with POAG and
significantly increases the risk of developing POAG.
Keywords :
PCR , Polymorphism , Primary Open Angle Glaucoma , TGF-beta2