Synergistic effect of MTHFR polymorphisms in arterial ischemic stroke in young adult (P3-5.014)

Abstract

<h3>Objective:</h3> Aims to evaluate the effect of methylenetetrahydrofolate reductase (MTHFR) polymorphisms (C677T and A1298C) in arterial ischemic stroke (AIS) among young patients. <h3>Background:</h3> The imputability of MTHFR polymorphisms in the occurrence of AIS remains ambiguous currently. <h3>Design/Methods:</h3> 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. <h3>Results:</h3> 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&lt; 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 &lt; 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]). <h3>Conclusions:</h3> 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. <b>Disclosure:</b> Miss M’barek has nothing to disclose. khadija maalla has nothing to disclose. Nadia Bouattour has nothing to disclose. Sawsan Daoud has nothing to disclose. Nouha Farhat has nothing to disclose. mariem damak has nothing to disclose. Salma Sakka has nothing to disclose. 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.