Fernández-Vega, Beatriz Álvarez, Lydia García, Montserrat Artime, Enol Fernández, Adrián González Fernández-Vega, Carlos Nicieza, Javier Vega, José A. González-Iglesias, Héctor Association study of high-frequency variants of <i>MTHFR</i> gene with retinal vein occlusion in a Spanish population <p><b>Background</b>: To study the association of the most common methylenetetrahydrofolate reductase (<i>MTHFR</i>) genetic polymorphisms C677T and A1298C with retinal vein occlusion (RVO) in a Spanish population.</p> <p><b>Methods</b>: Case–control study involving 359 subjects, 183 unrelated native Spanish patients diagnosed with RVO, distributed in central or branch RVO, and 176 healthy controls. Two SNPs located in the gene <i>MTHFR</i>, C677T (rs1801133) and A1298C (rs1801131) were analyzed by DNA sequencing and TaqMan assays.</p> <p><b>Results</b>: A high prevalence of the <i>MTHFR</i> variants T and C of the SNP C677T and A1298C, respectively, was observed in our population. Specifically, 88.07% of controls and 85.25% of RVO patients have at least one of these variants. However, the prevalence of these variants was not significantly different when comparing RVO patients and controls. The variant T of C677T was identified in 60.65% of RVO patients and 59.10% of control subjects, while the variant C of A1298C was present in 46.45% of RVO patients and 51.14% of controls. No association of dyslipidemia, diabetes mellitus, glaucoma, thyroid disease and renal disease with RVO was observed, while hypertension was significantly higher in the RVO patients (<i>p</i> < .0001).</p> <p><b>Conclusions</b>: The <i>MTHFR</i> variants, T of C677T and C of A1298C, did not significantly increase the risk of suffering RVO in a Spanish population and therefore additional risk factors are contributing to the onset of the disease.</p> Methylenetetrahydrofolate reductase (MTHFR) polymorphisms;retinal vein occlusion;genetic association study;Spanish population;world population review 2019-08-16
    https://tandf.figshare.com/articles/journal_contribution/Association_study_of_high-frequency_variants_of_i_MTHFR_i_gene_with_retinal_vein_occlusion_in_a_Spanish_population/9638513
10.6084/m9.figshare.9638513.v1