Introduction: Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations, being considered unfavourable genetic factors by causing elevated serum homocysteine levels, may be risk factors for cardiovascular disorders, including ischaemic stroke. In this study, the role of these two mutations in ischaemic stroke was examined:
Patients and methods: Genetic and clinical data were analysed of 122 ischaemic stroke patients and 102 control subjects with no lesions by neuroimaging.
Results: Neither of the two MTHFR mutations alone was found to be a significant genetic risk factor for ischaemic stroke. However, at least one MTHFR 677T allele combined with at least one MTHFR 1298C allele significantly increased the risk of ischaemic stroke (adjusted odds ratio: 3.39; p < 0.001).
Conclusion: The synergistic effect between the two MTHFR mutations may represent a new genetic stoke risk factor.