Synergistic effect of MTHFR polymorphisms in arterial ischemic stroke in young adult
Lamia M'BAREK1, khadija maalla1, Nadia Bouattour1, Sawsan Daoud1, Nouha Farhat1, mariem damak1, salma SAKKA1, Chokri Mhiri1
1Habib Bourguiba University Hospital
Objective:
Aims to evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) polymorphisms (C677T and A1298C) in arterial ischemic stroke (AIS) among young patients.
Background:
The imputability of MTHFR polymorphisms in the occurrence of AIS remains ambiguous currently.
Design/Methods:
Blood samples were collected from patients and healthy controls aged under 50 years from Tunisia, from January 2015 to December 2019. Statistical analysis was carried out to evaluate the relationship between MTHFR polymorphisms and AIS occurrence.
Results:
A total of 275 cases including 161 patients and 114 healthy controls, all matched for age and gender. The mutant genotypes of MTHFR C677T polymorphisms were found to significantly increase the risk of AIS (p< 10−3). Besides, the CC genotype of MTHFR A1298C polymorphism is significantly more prevalent in the pathologic group when compared to controls (OR: 3.471; 95% CI [1.594–7.557], p < 0.005). regarding the synergistic effect of both MTHFR (C667T/A1298C) polymorphisms, the TT /AA and TT/AC genotype was significantly associated with AIS (OR: 2.225; 95%CI [1.984–5.032] and 2.832 95%CI [1.613–13.091] respectively). The CC/CC genotype was not associated with stroke (p = 0.26). The compound genotype of CT/AC revealed a 4.98-fold increased risk for AIS (OR: 4.98; 95%CI [2.016–12.336]).
Conclusions:
Our study confirmed the involvement of MTHFR polymorphisms as AIS’s important risk factors. We assume that the synergistic effect of both MTHFR polymorphisms increases the risk of the AIS.