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Published on: April 1, 2019
CBS 844ins68, MTHFR TT677 and EPCR 4031ins23 genotypes in patients with deep-vein thrombosis
Ralf Grossmann1, Stefan Schwender, Ulrich Geisen
1Institute of Clinical Biochemistry and Pathobiochemistry, University of Wuerzburg, Josef Schneider Str 2, 97080, Würzburg, Germany. r.grossmann@medizin.uni-wuerzburg.de
Insights
Methylenetetrahydrofolate reductase (MTHFR) TT677 and EPCR 4031ins23 are not significant risk factors for deep-vein thrombosis (DVT). Cystathionine beta-synthase (CBS) 844ins68 may have a protective effect against DVT.
Area of Science:
- Genetics and Thrombosis Research
- Molecular Biology and Cardiovascular Disease
Background:
- Deep-vein thrombosis (DVT) is a complex condition influenced by genetic factors.
- Investigating specific gene variations, such as MTHFR TT677, CBS 844ins68, and EPCR 4031ins23, is crucial for understanding DVT pathogenesis.
Purpose of the Study:
- To investigate the association between MTHFR TT677 genotype, CBS 844ins68 mutation, and EPCR 4031ins23 with the risk of developing deep-vein thrombosis (DVT).
Main Methods:
- A case-control study involving 300 DVT patients and 410 healthy controls.
- Genotyping for MTHFR TT677, CBS 844ins68, and EPCR 4031ins23.
- Statistical analysis including odds ratios (OR) and logistic regression, considering interactions with Factor V Leiden and prothrombin gene G20210A mutations.
Main Results:
- MTHFR TT677 was found in 13.3% of patients and 14.4% of controls (OR 0.92).
- CBS 844ins68 was present in 6.7% of patients and 13.7% of controls (OR 0.45), suggesting a potential protective effect.
- EPCR 4031ins23 was rare, observed in only 2 patients (0.66%) and no controls.
Conclusions:
- MTHFR TT677 does not appear to be a significant risk factor for DVT.
- The role of EPCR 4031ins23 in DVT development is unclear due to its rarity.
- The potential protective effect of the CBS 844ins68 mutation warrants further investigation in DVT research.
Abstract:
The role of methylenetetrahydrofolate reductase (MTHFR) TT677 genotype, cystathionine beta-synthase (CBS) 844ins68 mutation and endothelial cell protein C receptor (EPCR) 4031ins23 in the development of deep-vein thrombosis (DVT) was investigated in 300 consecutive DVT patients and 410 healthy blood donors. MTHFR TT677 was found in 40 (13.3%) patients and in 59 (14.4%) controls (OR 0.92; 95% C.I. 0.54-1.41); CBS 844ins68 in 20 (6.7%) patients and in 56 (13.7%) control subjects (OR 0.45; 95% C.I. 0.27-0.77); and the combination of MTHFR TT677 with CBS 844ins68 in 4 (1.3%) patients and in 7 (1.7%) controls (OR 0.78; 95% C.I. 0.23-2.68). Logistic regression analysis did not show a further increase of risk for MTHFR TT677 or CBS 844ins68 in combination with the factor V Leiden or the prothrombin gene G20210A mutations. The EPCR 4031ins23 was observed in 2 patients (0.66%) and none of the controls. In conclusion, MTHFR TT677 does not appear to be an important risk factor for DVT, EPCR 403ins23 seems to be very rare, its role in the development of DVT unclear. A putative protective effect of CBS 844ins68 should be further investigated.
