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Single nucleotide polymorphisms that affect homocysteine levels in Turkish population
1Pediatric Molecular Genetic Department, Ankara University Medical School, Ankara, Turkey.
Summary
The TT genotype of the MTHFR 677 CT polymorphism significantly impacts homocysteine levels in the Turkish population. Other investigated single nucleotide polymorphisms (SNPs) showed no effect on homocysteine levels.
Area of Science:
- Genetics
- Biochemistry
- Population Studies
Background:
- Elevated homocysteine levels are linked to various health issues.
- Single nucleotide polymorphisms (SNPs) in key metabolic enzymes can influence homocysteine levels.
- Understanding genetic predispositions is crucial for personalized medicine.
Purpose of the Study:
- To investigate the association between specific SNPs in homocysteine metabolism genes and homocysteine levels.
- To identify genetic factors influencing homocysteine levels in the Turkish population.
Main Methods:
- Genotyping of SNPs in MTHFR (5,10-methylenetetrahydrofolate reductase), CBS (cystathionine beta-synthase), TYMS (thymidylate synthase), and DHFR (dihydrofolate reductase) enzymes.
- Analysis of the correlation between identified genotypes/haplotypes and measured homocysteine levels.
- Focus on the Turkish population.
Main Results:
- The TT genotype of the MTHFR 677 CT polymorphism was found to be a significant influencing factor on homocysteine levels.
- A distinct MTHFR 677 TT haplotype was identified that did not affect homocysteine levels.
- SNPs in CBS, TYMS, and DHFR enzymes did not demonstrate any significant influence on homocysteine levels.
Conclusions:
- The MTHFR 677 CT polymorphism, specifically the TT genotype, plays a role in modulating homocysteine levels in the Turkish population.
- Genetic variations in CBS, TYMS, and DHFR are not associated with homocysteine level variations in this cohort.
- Further research may elucidate the mechanisms behind the MTHFR-homocysteine association and the non-influential MTHFR haplotype.
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