Document Detail

Genetic determinants of plasma total homocysteine.
MedLine Citation:
PMID:  16047263     Owner:  NLM     Status:  MEDLINE    
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.
Henkjan Gellekink; Martin den Heijer; Sandra G Heil; Henk J Blom
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Seminars in vascular medicine     Volume:  5     ISSN:  1528-9648     ISO Abbreviation:  Semin Vasc Med     Publication Date:  2005 May 
Date Detail:
Created Date:  2005-07-27     Completed Date:  2005-09-29     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  100940307     Medline TA:  Semin Vasc Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  98-109     Citation Subset:  IM    
Laboratory of Pediatrics and Neurology (424), Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.
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MeSH Terms
Cardiovascular Diseases / etiology
Genetic Markers
Homocysteine / blood*,  genetics*
Hyperhomocysteinemia / blood*,  complications,  genetics
Methylenetetrahydrofolate Reductase (NADPH2) / genetics,  metabolism
Polymorphism, Genetic
Risk Factors
Reg. No./Substance:
0/Genetic Markers; 454-28-4/Homocysteine; EC Reductase (NADPH2)

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