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Clinical significance of determining plasma homocysteine: case-control study on arterial and venous thrombotic
Biljana A Vuckovic1, Velibor S Cabarkapa, Tatjana A Ilic
1Biljana A. Vuckovic, Department of Hemostasis, Thrombosis and Hematology Diagnostics, Centre for Laboratory Medicine, Clinical Centre of Vojvodina, Hajduk Veljkova 1-7, 21000 Novi Sad, Serbia, vuckovic.b@sbb.rs.
Insights
Elevated plasma homocysteine levels are significantly higher in thrombosis patients compared to controls. MTHFR 677 genotyping showed no significant differences in homocysteine levels across genotypes in either group.
Area of Science:
- Biochemistry
- Genetics
- Clinical Medicine
Background:
- Hyperhomocysteinemia is a risk factor for thrombosis.
- The methylenetetrahydrofolate reductase (MTHFR) 677 gene polymorphism is associated with homocysteine metabolism.
- Understanding the interplay between MTHFR genotype and homocysteine levels in thrombosis is crucial for risk assessment.
Purpose of the Study:
- To compare plasma homocysteine levels between thrombosis patients and controls based on MTHFR 677 genotype.
- To investigate the association between MTHFR 677 genotype subgroups and thrombosis risk.
- To determine if MTHFR 677 genotype influences homocysteine levels in patients with thrombosis.
Main Methods:
- A case-control study involving 65 patients with thrombosis and 65 age- and sex-matched controls.
- Plasma homocysteine levels were measured.
- Participants were genotyped for the MTHFR 677 polymorphism (homozygous, heterozygous, non-carriers).
Main Results:
- Thrombosis patients exhibited significantly higher plasma homocysteine levels (12.81 ± 4.94 µmol/L) and a higher incidence of hyperhomocysteinemia (55%) compared to controls (9.82 ± 3.68 µmol/L; 22%).
- No significant differences in homocysteine levels were observed among MTHFR 677 genotype subgroups within the thrombosis patient group or the control group.
- However, heterozygous carriers and non-carriers with thrombosis showed significantly higher homocysteine levels compared to their respective controls.
Conclusions:
- Plasma homocysteine levels are clinically significant in thrombosis prevention and management.
- MTHFR 677 genotyping alone does not appear to be a strong predictor of thrombosis risk when considering homocysteine levels.
- Focusing on homocysteine level management may be more beneficial than relying solely on MTHFR 677 genotyping for thrombosis patients.
Aim:
To determine the differences in plasma homocysteine levels between three MTHFR 677 genotype subgroups in patients with thrombosis and in controls, as well as between patients with thrombosis and controls with the same MTHFR 677 genotype.
Methods:
This case-control study was conducted in Clinical Center of Vojvodina, Novi Sad, from June to December 2011. We included 65 patients with either arterial or venous thrombosis (mean age, 40.97 ± 11.38 years) and 65 controls with no history or clinical evidence of any thrombotic event (mean age, 41.23 ± 11.12 years). Patients and controls were age- and sex-matched.
Results:
In comparison with controls, thrombotic patients had significantly higher homocysteine levels (12.81 ± 4.94 µmol/L vs 9.82 ± 3.68 µmol/L; P<0.001) and significantly higher incidence of hyperhomocysteinemia (55% vs 22%; P<0.001; odds ratio [OR]=4.521). There were no significant differences in homocysteine levels between homozygous carriers, heterozygous carriers, and non-carriers of the MTHFR 677 mutation in either thrombotic patients (12.97 ± 5.40 µmol/L vs 12.55 ± 5.71 µmol/L vs 13.27 ± 1.71 µmol/L; P=0.100) or controls (10.07±2.50 µmol/L vs 10.25 ± 4.84 µmol/L vs 9.20 ± 2.44 µmol/L; P=0.651). However, in comparison with controls, homozygous carriers in thrombotic patient group did not have significantly higher levels of homocysteine (12.97 ± 5.40 µmol/L vs 10.07 ± 2.50 µmol/L; P=0.072), but heterozygous carriers (12.55 ± 5.71 µmol/L vs 10.25 ± 4.84 µmol/L; P=0.020) and non-carriers (13.27 ± 1.71 µmol/L vs 9.20 ± 2.44 µmol/L; P<0.001) did. There was no significant difference in homocysteine levels between patients with arterial and venous thrombosis (12.76 ± 3.60 µmol/L vs 12.86 ± 5.51 µmol/L; P=0.990) and between patients with one thrombotic event and those with recurrent thrombotic events (12.14 ± 3.20 µmol/L vs 15.25 ± 8.51 µmol/L; P=0.254).
Conclusion:
Plasma homocysteine levels have a greater clinical significance in the prevention of thrombosis and managing its complications than MTHFR 677 genotyping.
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