title: Genetic determinants of plasma total homocysteine.
abstract: Hyperhomocysteinemia (Hhcy) is an established risk factor for various pathologies including arterial vascular disease and venous thrombosis, congenital malformations and other pregnancy complications, and dementia. Homocysteine remethylation, transsulfuration, and export to the blood/extracellular compartment determine homocysteine concentrations. Any disturbance in these routes may lead to Hhcy and potentially increase risk of disease. In this report, we aim to review all known polymorphisms involved in homocysteine and B-vitamin metabolism that have been assessed for their effect on tHcy. In the last section, we summarize the polymorphisms, for which the obtained data provides evidence for their involvement in Hhcy at the population level, and discuss how to continue our search for genetic determinants of tHcy.
authors.affiliation: Laboratory of Pediatrics and Neurology (424), Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
authors.forename: Henkjan
authors.initials: H
authors.lastname: Gellekink
authors.forename: Martin
authors.initials: M
authors.lastname: den Heijer
authors.forename: Sandra G
authors.initials: SG
authors.lastname: Heil
authors.forename: Henk J
authors.initials: HJ
authors.lastname: Blom
mesh_terms: D002318:Cardiovascular Diseases / Q000209:etiology; D005819:Genetic Markers; D005838:Genotype; D006710:Homocysteine / Q000097:blood* / Q000235:genetics*; D006801:Humans; D020138:Hyperhomocysteinemia / Q000097:blood* / Q000150:complications / Q000235:genetics; D008745:Methylation; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics / Q000378:metabolism; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D005819:Genetic Markers; D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2)