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Published on: April 13, 2018
[Hyperhomocysteinemia and deep-vein thrombosis]
Ling Qiu1, Sheng-kai Yan, Yao-hong Song
1Department of Laboratory Medicine, PUMC Hospital, CAMS and PUMC, Beijing 100730, China.
Insights
Elevated plasma homocysteine (Hcy) is a risk factor for deep-vein thrombosis (DVT). The interaction between low folate levels and MTHFR genotype significantly increases DVT risk.
Area of Science:
- Medical Science
- Genetics
- Hematology
Context:
- Deep-vein thrombosis (DVT) is a significant vascular condition.
- Hyperhomocysteinemia, a condition of elevated homocysteine levels, is implicated in thrombotic events.
- The role of methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and folate status in DVT pathogenesis requires further elucidation.
Purpose:
- To investigate the association between plasma homocysteine (Hcy) levels and deep-vein thrombosis (DVT).
- To analyze the interplay of Hcy, folate, and MTHFR gene polymorphism in DVT patients.
- To determine if MTHFR C677T genotype and folate levels are independent risk factors for DVT.
Summary:
- Plasma Hcy levels were significantly higher in DVT patients compared to controls.
- No significant difference in MTHFR C677T genotype frequencies or serum folate/vitamin B12 levels was observed between groups.
- Hyperhomocysteinemia was identified as an independent risk factor for DVT, with a notable interaction between low folate and the MTHFR TT genotype increasing DVT risk.
Impact:
- Findings suggest hyperhomocysteinemia is a key risk factor for DVT in the Han population.
- Serum folate levels and MTHFR C677T genotype alone are not significant risk factors.
- The interaction between folate status and MTHFR genotype significantly contributes to DVT risk, highlighting potential therapeutic targets.
Objective:
To study the relationship between plasma homocysteine (Hcy) level and deep-vein thrombosis (DVT), and analyze the interaction of Hcy, folate and methylenetetrahydrofolate reductase (MTHFR) gene polymorphism in patients with DVT.
Methods:
Totally 69 patients with DVT and 111 healthy controls were included in our case-control study. We determined the MTHFR C677T genotypes by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP), measured the serum folate and vitamin B12 by radioimmunoassay (RIA), and measured the plasma homocysteine level by fluorescence polarization immunoassay (FPIA).
Results:
The frequency of the MTHFR C677T TT genotype had no significant difference between DVT group and control group (P > 0.05). The plasma Hcy level was significantly higher in DVT group than in control group (13.03 +/- 8.74 mumol/L vs 10.14 +/- 4.30 mumol/L, P < 0.05). Both serum folate and VitB12 of patients with DVT were not significantly different from those of controls. The odds radios (OR) of hyperhomocysteinemia for DVT was 2.53 (95% CI 1.08-5.92). The interaction of low folate level and TT genotype increased the risk of DVT (OR = 3.12, 95% CI 1.17-8.38).
Conclusion:
Hyperhomocysteinemia may be an independent risk factor for DVT in Han nationality, while serum folate level and MTHRF C677T genotype are not. An interaction between serum folate level and MTHFR genotype that affect the Hcy level is an important risk factor for DVT.
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