PMID- 16047263
OWN - NLM
STAT- MEDLINE
DCOM- 20050929
LR  - 20131121
IS  - 1528-9648 (Print)
IS  - 1528-9648 (Linking)
VI  - 5
IP  - 2
DP  - 2005 May
TI  - Genetic determinants of plasma total homocysteine.
PG  - 98-109
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 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.
FAU - Gellekink, Henkjan
AU  - Gellekink H
AD  - Laboratory of Pediatrics and Neurology (424), Radboud University Nijmegen Medical 
      Center, Nijmegen, The Netherlands.
FAU - den Heijer, Martin
AU  - den Heijer M
FAU - Heil, Sandra G
AU  - Heil SG
FAU - Blom, Henk J
AU  - Blom HJ
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Semin Vasc Med
JT  - Seminars in vascular medicine
JID - 100940307
RN  - 0 (Genetic Markers)
RN  - 0LVT1QZ0BA (Homocysteine)
RN  - EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2))
SB  - IM
MH  - Cardiovascular Diseases/etiology
MH  - Genetic Markers
MH  - Genotype
MH  - Homocysteine/*blood/*genetics
MH  - Humans
MH  - Hyperhomocysteinemia/*blood/complications/genetics
MH  - Methylation
MH  - Methylenetetrahydrofolate Reductase (NADPH2)/genetics/metabolism
MH  - Polymorphism, Genetic
MH  - Risk Factors
RF  - 123
EDAT- 2005/07/28 09:00
MHDA- 2005/09/30 09:00
CRDT- 2005/07/28 09:00
PHST- 2005/07/28 09:00 [pubmed]
PHST- 2005/09/30 09:00 [medline]
PHST- 2005/07/28 09:00 [entrez]
AID - 10.1055/s-2005-872396 [doi]
PST - ppublish
SO  - Semin Vasc Med. 2005 May;5(2):98-109. doi: 10.1055/s-2005-872396.