title: [The role of homocysteine and methylenetetrahydrofolate reductase, methionine synthase, methionine synthase reductase polymorphisms in the development of cardiovascular diseases and hypertension].
abstract: Cardiovascular diseases (CVDs) are the leading causes of death in the developed countries. Elevated homocysteine level is as an independent risk factor of CVDs. The C677T and A1298C variants of methylenetetrahydrofolate reductase gene (MTHFR) have been shown to influence folate and homocysteine metabolisms. However, the relationship between MTHFR polymorphisms and hyperhomocysteinemia has not been well established yet. The gene variants were also reported to be associated with CVDs. In addition, the C677T polymorphisms may play a role in the development of hypertension. Recent research evidence has suggested that MTHFR variants might be independently linked to CVDs and hypertension, because of the involvement of the MTHFR enzyme product (5-methyl-tetrahydrofolate /5-MTHF) in the regulation of endothelial functions. Further research is required to investigate the association between gene polymorphisms of folate-metabolizing enzymes and CVDs, and to identify the possible role of the relevant gene variants in the molecular pathogenesis of hyperhomocysteinemia.
authors.affiliation: NAGY GÉN Diagnosztikai és Kutatási Kft. Budapest. cristina.marosi@gmail.com
authors.forename: Krisztina
authors.initials: K
authors.lastname: Marosi
authors.forename: Annamária
authors.initials: A
authors.lastname: Agota
authors.forename: Veronika
authors.initials: V
authors.lastname: Végh
authors.forename: József Gábor
authors.initials: JG
authors.lastname: Joó
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Langmár
authors.forename: Ildikó
authors.initials: I
authors.lastname: Kriszbacher
authors.forename: Zsolt B
authors.initials: ZB
authors.lastname: Nagy
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics* / Q000378:metabolism; D002318:Cardiovascular Diseases / Q000201:enzymology* / Q000235:genetics*; D005287:Ferredoxin-NADP Reductase / Q000235:genetics*; D005492:Folic Acid / Q000378:metabolism; D006710:Homocysteine / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D020138:Hyperhomocysteinemia / Q000201:enzymology / Q000235:genetics / Q000378:metabolism; D006973:Hypertension / Q000201:enzymology / Q000235:genetics; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D006710:Homocysteine; D005492:Folic Acid; C111241:methionine synthase reductase; D005287:Ferredoxin-NADP Reductase; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase