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MTHFR (C677T, A1298C), FV Leiden polymorphisms, and the prothrombin G20210A mutation in arterial ischemic stroke among young tunisian adults

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Abstract

Arterial ischemic stroke (AIS) in young adults is less common in older adults, but the underlying pathogenesis and risk factors are more multi-faceted. The role of inherited thrombophilia such as 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, (C677T and A1298C), factor V of Leiden (FVL) polymorphism, and the prothrombin G20210A mutations remains unclear. This study aims to evaluate the role of prothrombin genetic factor in AIS among young adults in Tunisia and to assess the synergistic effect between thrombogenic mutations in the pathogenesis of AIS. In this case-control study, blood samples were collected from patients and healthy controls, all matched for age and gender. The difference between them is evaluated by using the chi-square test. The odds ratio (OR) was carried out to evaluate the associations between each polymorphism and AIS risk using a binary logistic regression model. Values were considered statistically significant when p < 0.05. Patients carrying simultaneously the MTHFR polymorphisms (677T and 1298C) have a higher risk to develop AIS compared to controls. The heterozygous variants FVL increased the risk of AIS only when it is associated with MTHFR C677T or MTHFR A1298C polymorphisms. In conclusion, our study confirmed the involvement of MTHFR polymorphisms as AIS’s important risk factors. The existence of FVL polymorphism or prothrombin G20210A mutation alone doesn’t correlate with the occurrence of stroke. We assume that the presence of both MTHFR and FVL polymorphisms has a synergistic effect and increased the risk of the AIS.

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All data generated or analyzed during this study are included in this published article.

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Acknowledgements

We are tremendously thankful for the contribution and support of all the Department of Neurology staff and the Laboratory of the hematology staff of Habib Bourguiba University Hospital of Sfax.

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Authors and Affiliations

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Contributions

PhD. Lamia M’barek: conceptualized and designed the study, designed the data collection experiments, drafted the initial manuscript, carried out the analyses, reviewed and revised the manuscript and approved the final manuscript as submitted.

Dr. Salma Sakka: reviewed and revised the manuscript, and approved the final manuscript as submitted.

Dr. Fatma Meghdiche: contribute to statistical exploration, and approved the final manuscript as submitted. Dr. Dhaker Turki and Dr. Khadija Maalla: providing the samples analyzed in this work, analyzed the clinical symptoms of patients.

Pr. Mariem Dammak and Pr. Choumous Kallel carried out the initial analyses, reviewed and revised gthe manuscript and approved the final manuscript as submitted.

Pr. Chokri Mhiri carried out the initial analyses, reviewed and revised the manuscript and approved the final manuscript as submitted. Corresponding author and guarantor for the article.

Corresponding author

Correspondence to Lamia M’barek.

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The authors have no conflicts of interest to declare. 

Research involving human participants

A Written informed consent was obtained from the patients to publish the results of the study, and the study was ethically approved by the institutional ethics committee of CHU Habib Bourguiba, Sfax, Tunisia.

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M’barek, L., Sakka, S., Meghdiche, F. et al. MTHFR (C677T, A1298C), FV Leiden polymorphisms, and the prothrombin G20210A mutation in arterial ischemic stroke among young tunisian adults. Metab Brain Dis 36, 421–428 (2021). https://doi.org/10.1007/s11011-020-00663-7

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  • DOI: https://doi.org/10.1007/s11011-020-00663-7

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