TY - JOUR
T1 - Genetic determinants of plasma total homocysteine
AU - Gellekink, Henkjan
AU - Den Heijer, Martin
AU - Heil, Sandra G.
AU - Blom, Henk J.
PY - 2005
Y1 - 2005
N2 - 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 homocysteme 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.
AB - 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 homocysteme 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.
KW - Disease
KW - Genetic variation
KW - Hyperhomocysteinemia
KW - Plasma total homocysteine (tHcy)
UR - http://www.scopus.com/inward/record.url?scp=21744457072&partnerID=8YFLogxK
U2 - https://doi.org/10.1055/s-2005-872396
DO - https://doi.org/10.1055/s-2005-872396
M3 - Review article
C2 - 16047263
SN - 1528-9648
VL - 5
SP - 98
EP - 109
JO - Seminars in vascular medicine
JF - Seminars in vascular medicine
IS - 2
ER -