Association between Methylenetetrahydofolate Reductase C677T Polymorphisms, Plasma Homocysteine Levels, and Primary Open-Angle Glaucoma in Jordanian Patients

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Kaswal M.
AbuJeyyab M.
Alzubi K.
Alsarireh F.
Fouad H.
Mahgoub,S.

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2025

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Abstract

Primary open-angle glaucoma (POAG) is a chronic, progressive optic neuropathy, recognized as the second most common cause of irreversible blindness globally. It is marked by the gradual degeneration of retinal ganglion cells, leading to optic nerve head cupping, optic disc excavation, and progressive visual field loss.The study aimedto investigate the relationship between POAG, methylenetetrahydofolate reductase (MTHFR) C677T polymorphism, and levels of plasma homocysteine,a well-known vascular risk factoramongstPOAG Jordanian patients. This case-control study included 183 participants: 89 POAG patients and 94 non-glaucomatous controls. In total, blood samples from allparticipants were analyzed for assessing plasma homocysteine levels and MTHFR C677T polymorphisms. Homocysteine levels were measured using ELISA, while the MTHFR C677T polymorphismswere identified through polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) analysis.Ourfindingsrevealed thatplasma homocysteine levels and hyperhomocysteinemia rate were significantly higher in POAG patients versus the controls (p<0.05). In contrast, no significant differences were identified in allelic frequency and MTHFR C677T polymorphismsdistribution between POAG patients and controls.Elevated homocysteine levels and a higher hyperhomocysteinemia prevalence have been observed in POAG patients, suggesting a potential role in the disease's pathogenesis. Furthermore, a statistically significant association and increased risk linked to the CT and TT polymorphisms, as well as T allele, indicate that MTHFR C677T polymorphisms may contribute to POAG development in the Jordanian population. Copyright Published by Oriental Scientific Publishing Company © 2025.

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Biomedical and Pharmacology Journal

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18

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4

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