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Abstract Details

Synergic effect of MTHFR and FVL polymorphisms increased risk of arterial ischemic stroke in Tunisia
Cerebrovascular Disease and Interventional Neurology
Cerebrovascular Disease and Interventional Neurology Posters (7:00 AM-5:00 PM)
189

To establish a causal link between methylenetetrahydrofolate reductase (MTHFR), the factor V leiden (FVL) and arterial ischemic stroke (AIS) in a young Tunisian population.

The role of inherited thrombophilia including MTHFR polymorphisms (C677T and A1298C), FVL polymorphism are well-established predisposing factors for venous thromboembolism, but his role in arterial ischemic stroke, remains uncertain. 
We included all patients aged 18 to 50 years with the diagnosis of ischemic stroke, referred to the department of neurology from January 2015 to December 2019. Exclusion criteria included any obvious cause of AIS (cardioembolic, arterial dissection…), The control group consisted of healthy Tunisian individuals with good medical health for their age.  Data was analyzed using the chi-square test Odds ratio (OR) was carried out with 2x2 cross tabulation and a binary logistic regression model. Values were considered statistically significant when p< 0.05. 

A total of 275 participants were included in this study. Cases included 161 patients with a history of ischemic stroke and controls included 114 patients matched in sex and age. Molecular exploration show that FVL mutation did not differ significantly between subjects and controls (p = 0.25). Both MTHFR 677T and 1298C polymorphisms were more common in patients than in controls (p< 10-3). The double heterozygous variants FVL-MTHFR C677T and/or FVL-MTHFR A1298C had increased in a significant way the risk of AIS’ development with, respectively, [OR:3.540; 95% CI: 1.791-15.853] and [OR:3.540; 95% CI: 1.419-29.899].

Our study confirmed the involvement of the MTHFR polymorphisms as AIS’s important risk factors. The exploration of both FVL polymorphism didn’t show any correlation with stroke development. A synergistic effect of MTHFR and FVL polymorphisms proved for the first time an increased risk of the AIS.

Authors/Disclosures

PRESENTER
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
No disclosure on file
Chokri A. Mhiri, MD (Habib Bourguiba Hospital) Prof. Mhiri has received personal compensation for serving as an employee of Hikma. Prof. Mhiri has received personal compensation for serving as an employee of Sanofi Genzyme. Prof. Mhiri has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Novartis. Prof. Mhiri has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Roche.