Document Detail

Single nucleotide polymorphisms that affect homocysteine levels in Turkish population.
MedLine Citation:
PMID:  18796460     Owner:  NLM     Status:  MEDLINE    
In this study, single nucleotide polymorphisms (SNPs) involved in homocysteine metabolism such as CT replacement in the 677th nucleotide in 5,10-methylenetetrahydrofolate reductase (MTHFR) enzyme; 68-bp insertion in the 844th nucleotide of cystathionine beta-synthase (CBS) enzyme; 6-bp insertion/deletion in the region of 3'UTR in thymidylate synthase (TYMS) enzyme and 19-bp deletion in dihydrofolate reductase (DHFR) enzyme were investigated. The effects of these mutations on homocysteine levels were studied. As a result; we found that TT genotype of MTHFR 677 CT is an influencing factor on homocysteine levels in Turkish population. Furthermore, there seems to be another MTHFR 677 TT haplotype, which does not have an effect on homocysteine levels. Our data revealed that other SNPs did not have any influence on homocysteine levels.
Yasemin L Ko??; Nejat Akar
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-09-15
Journal Detail:
Title:  Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis     Volume:  15     ISSN:  1938-2723     ISO Abbreviation:  Clin. Appl. Thromb. Hemost.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2009-11-20     Completed Date:  2010-02-02     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508125     Medline TA:  Clin Appl Thromb Hemost     Country:  United States    
Other Details:
Languages:  eng     Pagination:  701-4     Citation Subset:  IM    
Pediatric Molecular Genetic Department, Ankara University Medical School, Ankara, Turkey.
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MeSH Terms
Age Distribution
Aged, 80 and over
Cystathionine beta-Synthase / genetics
Homocysteine / blood*,  metabolism
Metabolic Networks and Pathways / genetics
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Middle Aged
Polymorphism, Single Nucleotide*
Tetrahydrofolate Dehydrogenase / genetics
Thymidylate Synthase / genetics
Turkey / epidemiology
Young Adult
Reg. No./Substance:
454-28-4/Homocysteine; EC Reductase (NADPH2); EC Dehydrogenase; EC Synthase; EC beta-Synthase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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