Paraoxonase 1 (PON1) promoter (−107T/C) and coding region (192Q/R and 55L/M) genetic variations in pseudoexfoliation syndrome and pseudoexfoliative glaucoma risk
Pseudoexfoliation syndrome (PEX) is characterized by the accumulation of microscopic extracellular material in the anterior chamber of the eye and can lead to the development of pseudoexfoliative glaucoma (PEG) in some patients. The pathogenesis of PEX is not fully understood, and there are no objective biomarkers for its early diagnosis. Recent research has indicated that oxidative stress and inflammation might play a role in the pathophysiology of the production of pseudoexfoliation material. Therefore, in the present study, we aimed to analyze the possible association between three genetic variants of paraoxonase 1 (PON1), a well-recognized antioxidant and anti-inflammatory enzyme, and PEX/PEG.
The study population consisted of patients with PEX (n = 150), patients with PEG (n = 150), and control subjects (n = 150). PON1 −107T/C, 192Q/R, and 55L/M genotypes were determined using PCR followed by restriction fragment length polymorphism analysis. The correlation between these genetic alterations and clinical visual characteristics was also investigated.
The minor allele frequencies and genotype distributions of PON1 did not differ significantly between the PEG, PEX, and control groups. Moreover, PON1 genotypes did not significantly influence visual clinical parameters in stratification analysis. On the other hand, in correlation analysis, pattern standard deviation was significantly correlated with the −107T/C genotypes in PEX group. In addition, intraocular pressure was correlated with the 55L/M genotypes and mean deviation was correlated with the −107T/C genotypes in the control group. Furthermore, intraocular pressure was significantly inversely correlated with sex (r = − 0.116, P = 0.011) in the overall study group. Logistic regression analysis showed that having a PON1 −107TC or CC genotype is significantly associated with PEX (OR = 1.909, P = 0.020).
This study, for the first time, analyzed the relationship between PON1 genetic variants, clinical visual parameters, and PEX/PEG. The results indicated a possible role for the PON1 promoter variant in PEX.
KeywordsIOP Mean deviation Pattern standard deviation Polymorphism Visual field score
Polymerase chain reaction
Pattern standard deviation
Restriction fragment length polymorphism
Visual field score
The authors thank the subjects for their participation in this study, and Dr. Tarkan Mumcuoğlu and Dr. Gökhan Özge for sample collection.
This study was supported by a research grant from TUBITAK 315S190.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
Informed consent was obtained from all individual participants included in the study.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
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