Association study of high-frequency variants of MTHFR gene with retinal vein occlusion in a Spanish population

• Published in: Ophthalmic genetics Vol. 40; no. 4; pp. 342 - 349
• Main Authors: Fernández-Vega, Beatriz, Álvarez, Lydia, García, Montserrat, Artime, Enol, González Fernández, Adrián, Fernández-Vega, Carlos, Nicieza, Javier, Vega, José A., González-Iglesias, Héctor
• Format: Journal Article
• Language: English
• Published: England 04.07.2019
• Subjects: Adult; Aged; Aged, 80 and over; Case-Control Studies; Female; Follow-Up Studies; Genetic Association Studies; Genotype; Humans; Male; Methylenetetrahydrofolate Reductase (NADPH2) - genetics; Middle Aged; Polymorphism, Single Nucleotide; Prognosis; Retinal Vein Occlusion - epidemiology; Retinal Vein Occlusion - genetics; Retinal Vein Occlusion - pathology; Risk Factors; Spain - epidemiology; Young Adult; Spain; retinal vein occlusion; world population review; Spanish population; Methylenetetrahydrofolate reductase polymorphisms; genetic association study
• ISSN: 1381-6810; 1744-5094; 1744-5094
• DOI: 10.1080/13816810.2019.1655772

: To study the association of the most common methylenetetrahydrofolate reductase ( ) genetic polymorphisms C677T and A1298C with retinal vein occlusion (RVO) in a Spanish population. : 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 , C677T (rs1801133) and A1298C (rs1801131) were analyzed by DNA sequencing and TaqMan assays. : A high prevalence of the 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 ( < .0001). : The 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.