Association of Methylenetetrahydrofolate reductase (A1298C and C677T) Polymorphisms with Retinal Vein Occlusion in Tunisian Patients

The link between MTHFR polymorphisms and the aetiology of retinal vein occlusion (RVO) has not been sufficiently clarified. Therefore, 72 Tunisian patients with RVO compared to a matched group of 140 healthy controls were genotyped for the MTHFR C677T and A1298C polymorphisms. The A1298C polymorphisms were only found to be significantly associated with RVO presentation when viewed as a whole group, as opposed individual genotypes (AA, AC, CC). The frequency of the C677T genotype along with the combined mutated genotypes (CT + TT) was found to be significantly higher among RVO patients compared with controls. This suggests an association between the C677T polymorphism and RVO. A large sample size would need to be utilized in future studies to garner a deeper understanding of MTHFR mutations in relation to this specific condition.

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February 10, 2014