Acta clinica Croatica, Vol. 64. No. 2, 2025.
Original scientific paper
https://doi.org/10.20471/acc.2025.64.02.07
Thrombotic Risk Evaluation of Two Methylenetetrahydrofolate Reductase Mutations C677t and A1298c in Venous Thromboembolism
Renata Kundid
orcid.org/0000-0002-4695-7081
; Department of Molecular Diagnostics, Croatian Institute of Transfusion Medicine, Zagreb, Croatia
*
Monika Kolundžić
orcid.org/0000-0002-1350-2793
; Department of Laboratory Diagnostics, University Hospital Center Zagreb, Zagreb, Croatia
Ivana Babić
; Department of Molecular Diagnostics, Croatian Institute of Transfusion Medicine, Zagreb, Croatia
Tatjana Kereš
orcid.org/0000-0002-7254-4264
; Department of Emergency and Intensive Care Medicine, Dubrava University Hospital, Zagreb, Croatia
Tomo Svaguša
Jasna Bingulac- Popović
orcid.org/0000-0002-9449-3154
; Department of Molecular Diagnostics, Croatian Institute of Transfusion Medicine, Zagreb, Croatia
Ana Hećimović
; Department of Reagents Production, Croatian Institute of Transfusion Medicine, Zagreb, Croatia
Irena Jukić
; Medical Department, Croatian Institute of Transfusion Medicine, Zagreb, Croatia; Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia
* Corresponding author.
Abstract
The MTHFR mutations C677T and A1298C combined with folate and vitamin
B12 deficiency lead to hypercoagulability. We evaluated thrombotic risk due to MTHFR mutations,
individually and in combination, in patients with venous thromboembolism (VTE). The case-control
study included groups of 262 VTE patients and 101 healthy controls. Allelic distribution of MTHFR
C677T/A1298C mutations was determined by real-time polymerase chain reaction and results were
statistically analyzed using χ2-test and comparison of proportions with 95% confidence intervals (95%
CI) and p=0.05. There was no statistically significant difference in the frequencies of C677T MTHFR
genotypes between the patient group and controls (p=0.676; odds ratio (OR)=1.297; 95% CI 0.649-
2.592), or for A1298C mutation (p=0.872; OR=0.894; 95% CI 0.564-1.419). The allele distribution
of both MTHFR mutations did not show any significant differences (C677T p=0.808; OR=1.043;
95% CI 0.741-1.468 and A1298C p=0.738; OR=0.943; 95% CI 0.667-1.332). MTHFR genotype
distributions did not show any significant difference between genders when analyzed with χ2-test.
When evaluating a combination of mutations, the greatest difference between the cases and controls
was found in the frequencies of MTHFR TT/AA carriers (2.6%), which, however, did not reach
significance (p=0.520). In conclusion, MTHFR C677T and A1298C mutations do not represent risk
factors for VTE development in the group of Croatian patients.
Keywords
MTHFR (methylenetetrahydrofolate reductase); Venous thromboembolism; Genotype; Alleles
Hrčak ID:
337583
URI
Publication date:
30.6.2025.
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