To investigate the correlation between retinal vein obstruction (RVO) and apolipoprotein E (ApoE) and methylene tetrahydrofolate reductase (MTHFR) C677T gene polymorphisms.

A case-control study was conducted, enrolling 165 patients with RVO (RVO group) admitted to Xuzhou No.1 People′s Hospital from September 2021 to September 2024, and 165 age-and gender-matched patients without retinal diseases (non-RVO group) hospitalized during the same period. ApoE and MTHFR C677T loci polymorphisms were detected by polymerase chain reaction and restriction and fragment length polymorphism, and the chi-square test or Fisher′s exact test was used to compare genotype and allele frequencies between the 2 groups. The relationship between these polymorphisms and RVO susceptibility was analyzed by binary Logistic regression model.

The frequency of ApoE ε4 allele in RVO group was significantly higher than that in non-RVO group (7.27%, 3.64%, χ²=4.231, P<0.05). The TT genotype frequency of MTHFR C677T locus was significantly higher in RVO group than that in non-RVO group (33.33%, 15.15%, χ²=14.850, P<0.05), and the T allele frequency in RVO group was significantly higher than that in non-RVO group (56.97%, 43.33%, χ²=12.273, P<0.05). Binary Logistic regression analysis showed that the ε4 allele of ApoE (OR=2.221, 95%CI: 1.051-4.696) and the T allele of MTHFR C677T (OR=1.822, 95%CI: 1.353-2.454) were associated with RVO susceptibility after adjusting hypertension, diabetes mellitus and other factors (all P<0.05).

RVO is associated with polymorphisms of ApoE and MTHFR C677T gene, and the ε4 allele of ApoE and the T allele of MTHFR C677T locus can increase the risk of RVO.