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

dc.contributor.authorFernández-Vega B.
dc.contributor.authorÁlvarez L.
dc.contributor.authorGarcía M.
dc.contributor.authorArtime E.
dc.contributor.authorGonzález Fernández A.
dc.contributor.authorFernández-Vega C.
dc.contributor.authorNicieza J.
dc.contributor.authorVega J.A.
dc.contributor.authorGonzález-Iglesias H.
dc.date.accessioned2020-09-02T22:17:32Z
dc.date.available2020-09-02T22:17:32Z
dc.date.issued2019
dc.identifier10.1080/13816810.2019.1655772
dc.identifier.citation40, 4, 342-349
dc.identifier.issn13816810
dc.identifier.urihttps://hdl.handle.net/20.500.12728/4465
dc.descriptionBackground: To study the association of the most common methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms C677T and A1298C with retinal vein occlusion (RVO) in a Spanish population. Methods: 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 MTHFR, C677T (rs1801133) and A1298C (rs1801131) were analyzed by DNA sequencing and TaqMan assays. Results: A high prevalence of the MTHFR 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 (p '.0001). Conclusions: The MTHFR 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. © 2019, © 2019 Taylor & Francis Group, LLC.
dc.language.isoen
dc.publisherTaylor and Francis Ltd
dc.subjectgenetic association study
dc.subjectMethylenetetrahydrofolate reductase (MTHFR) polymorphisms
dc.subjectretinal vein occlusion
dc.subjectSpanish population
dc.subjectworld population review
dc.subject5,10 methylenetetrahydrofolate reductase (FADH2)
dc.subjectgenomic DNA
dc.subjectmethylenetetrahydrofolate reductase (NADPH2)
dc.subjectMTHFR protein, human
dc.subjectadult
dc.subjectaged
dc.subjectArticle
dc.subjectbranch retinal vein occlusion
dc.subjectcase control study
dc.subjectcentral retina vein occlusion
dc.subjectclinical observation
dc.subjectcomparative study
dc.subjectcontrolled study
dc.subjectdiabetes mellitus
dc.subjectDNA sequence
dc.subjectdyslipidemia
dc.subjectfemale
dc.subjectgene frequency
dc.subjectgene location
dc.subjectgenetic association
dc.subjectgenetic risk
dc.subjectgenetic variability
dc.subjectglaucoma
dc.subjecthuman
dc.subjecthypertension
dc.subjectkidney disease
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectprevalence
dc.subjectpriority journal
dc.subjectretina vein occlusion
dc.subjectrisk factor
dc.subjectsingle nucleotide polymorphism
dc.subjectSpaniard
dc.subjectthyroid disease
dc.subjectfollow up
dc.subjectgenetic association study
dc.subjectgenetics
dc.subjectgenotype
dc.subjectmiddle aged
dc.subjectpathology
dc.subjectprognosis
dc.subjectretina vein occlusion
dc.subjectSpain
dc.subjectvery elderly
dc.subjectyoung adult
dc.subjectAdult
dc.subjectAged
dc.subjectAged, 80 and over
dc.subjectCase-Control Studies
dc.subjectFemale
dc.subjectFollow-Up Studies
dc.subjectGenetic Association Studies
dc.subjectGenotype
dc.subjectHumans
dc.subjectMale
dc.subjectMethylenetetrahydrofolate Reductase (NADPH2)
dc.subjectMiddle Aged
dc.subjectPolymorphism, Single Nucleotide
dc.subjectPrognosis
dc.subjectRetinal Vein Occlusion
dc.subjectRisk Factors
dc.subjectSpain
dc.subjectYoung Adult
dc.titleAssociation study of high-frequency variants of MTHFR gene with retinal vein occlusion in a Spanish population
dc.typeArticle


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