Association of Hemostasis and Folate Cycle Gene Polymorphisms with Central and Branch Retinal Vein Occlusions: A Case-Control Study

Zhadyra Yersariyeva, B Suleyeva, Botagoz Turdaliyeva, Kuralay Kainazarova, Aigul Balmukhanova, Galiya Toxanbayeva, Altynay Balmukhanova

2025

Full text Open access: Gold Metadata (CSL-JSON)
DOI 10.48048/tis.2026.11483
Data confidence 70 medium
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Abstract

Retinal vein occlusions, including CRVO and BRVO, are significant causes of visual impairment, with various systemic and genetic factors influencing their development. This study investigates the hemodynamic parameters and genetic polymorphisms of genes of hemostasis and the folate cycle in patients with RVO.A case-control study involved 51 retinal vein occlusion patients and 57 controls. Clinical evaluation was performed through optical coherence tomography and color duplex mapping. Genetic analysis was carried out using polymerase chain reaction-restriction fragment length polymorphism to detect polymorphisms in PAI1, ITGA2, F7, F13, MTRR, and MTHFR genes. Visual acuity was significantly reduced in central retinal vein occlusion (CRVO: 0.4 [0.0 - 0.9], 0.50.4) and branch retinal vein occlusion (BRVO: 0.45 [0.0 - 1.0], 0.50.2) compared to controls (0.9 [0.7 - 1.0], 0.10.6). Optical coherence tomography showed increased retinal thickness in BRVO (p < 0.0001). Hemodynamic analysis revealed reduced ocular blood flow velocities (BRVO: −59.0%, 95% CI: 50.0 - 68.0; CRVO: −53.6%, 95% CI: 44.2 - 63.0; p < 0.0001). Genetic testing identified strong associations between RVO and PAI1 (OR = 2.31, 95% CI: 1.34 - 3.12), ITGA2 (OR = 2.15, 95% CI: 1.27 - 2.89), F7 (OR = 1.98, 95% CI: 1.21 - 2.71), F13 (OR = 2.20, 95% CI: 1.28 - 3.02), MTRR (OR = 1.87, 95% CI: 1.13 - 2.59), and MTHFR (OR = 2.56, 95% CI: 1.48 - 3.42). Logistic regression, adjusted for hypertension and diabetes, confirmed these genetic variants as independent RVO risk factors. These findings suggest that genetic testing with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) can help detect these polymorphisms early. This may support timely diagnosis and management of retinal vein occlusion (RVO), leading to more personalized care and better outcomes. HIGHLIGHTS This study identifies significant associations between retinal vein occlusion (RVO) and genetic polymorphisms in plasminogen activator inhibitor-1 (PAI1), integrin subunit alpha 2 (ITGA2), coagulation factor VII (F7), coagulation factor XIII (F13), methionine synthase reductase (MTRR), and methylenetetrahydrofolate reductase (MTHFR). A strong correlation was found between macular thickness, ocular blood flow, and specific genetic variants in patients with RVO. PCR-RFLP-based genetic screening shows promise for early diagnosis and individualized risk assessment in retinal vascular disorders. GRAPHICAL ABSTRACT