Investigation of methylenetetrahydrofolate reductase C677T and factor V Leiden mutation as a genetic marker for retinal vein occlusion

• Published in: Taiwan journal of ophthalmology Vol. 8; no. 2; pp. 99 - 103
• Main Authors: Nema, Nitin, Verma, Sonam, Kumar, Ravindra
• Format: Journal Article
• Language: English
• Published: India Wolters Kluwer - Medknow Publications 01.04.2018; Medknow Publications and Media Pvt. Ltd; Medknow Publications & Media Pvt Ltd; Wolters Kluwer Medknow Publications
• Subjects: Ethylenediaminetetraacetic acid; Factor V Leiden; Genetic aspects; Genetic markers; Genetic polymorphisms; hyperhomocysteinemia; Investigations; methylenetetrahydrofolate reductase; Original; Retinal diseases; retinal vein occlusion; Risk factors; retinal vein occlusion; hyperhomocysteinemia; methylenetetrahydrofolate reductase; Factor V Leiden
• ISSN: 2211-5056; 2211-5072
• DOI: 10.4103/tjo.tjo_43_17

PURPOSE: Thromboembolic phenomenon is one of the causes of retinal vein occlusion (RVO) which is in fact a multifactorial disease. Therefore, we aimed to study methylenetetrahydrofolate reductase gene polymorphism (MTHFR C677T) and factor V Leiden as genetic risk factors of RVO. MATERIALS AND METHODS: A total of 50 (19 males and 31 females) cases of RVO were compared with 50 age- and sex-matched (21 males and 29 females) controls. Complete ocular examination was done for all samples. The diagnosis of RVO was made clinically; however, fundus fluorescein angiography and optical coherence tomography were performed when needed. Serum homocysteine levels were estimated by automatic chemiluminescence analyzer, whereas MTHFR C677T and factor V Leiden mutations were detected by polymerase chain reaction-restriction fragment length polymorphism method. RESULTS: The mean age of RVO cases and controls was 54.62 ± 13.92 years and 58.72 ± 11.20 years, respectively. 48.3% of cases and 51.7% of controls were diabetic. 65.3% of cases were hypertensive proving hypertension as a strong risk factor (P = 0.003) of RVO. Serum homocysteine was also found significantly high (P = 0.025) with mean values of 19.98 ± 9.03 μmol/L and 16.98 ± 8.29 μmol/L in cases and controls, respectively. The MTHFR genotype (CT) was found in 83.3% patients of central RVO group and 78.6% cases of branch RVO group that was significantly associated with high serum homocysteine levels. Factor V Leiden mutation was absent in all individuals. CONCLUSION: Hyperhomocysteinemia is an important risk factor for RVO, especially in patients with MTHFR C677T gene polymorphism.