title: Single nucleotide polymorphisms that affect homocysteine levels in Turkish population.
abstract: 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.
authors.affiliation: Pediatric Molecular Genetic Department, Ankara University Medical School, Ankara, Turkey.
authors.forename: Yasemin L
authors.initials: YL
authors.lastname: Koç
authors.forename: Nejat
authors.initials: N
authors.lastname: Akar
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D000368:Aged; D000369:Aged, 80 and over; D003541:Cystathionine beta-Synthase / Q000235:genetics; D005260:Female; D006710:Homocysteine / Q000097:blood* / Q000378:metabolism; D006801:Humans; D008297:Male; D053858:Metabolic Networks and Pathways / Q000235:genetics; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D013762:Tetrahydrofolate Dehydrogenase / Q000235:genetics; D013940:Thymidylate Synthase / Q000235:genetics; D014421:Turkey / Q000453:epidemiology; D055815:Young Adult
chemical_list: D006710:Homocysteine; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013762:Tetrahydrofolate Dehydrogenase; D013940:Thymidylate Synthase; D003541:Cystathionine beta-Synthase