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

Mbarek, Lamia; Sakka, Salma; Meghdiche, Fatma; Turki, Dhaker; Maalla, Khadija; Dammak, Mariem; Kallel, Choumous; Mhiri, Chokri

doi:10.1007/s11011-020-00663-7

Cited by 8 publications

(13 citation statements)

References 48 publications

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“…Zhang et al suggest that hyperhomocysteinemia can predict the risk of stroke recurrence and mortality in patients with stroke 32 . Previous studies have shown that a synergistic effect of both MTHFR polymorphisms was associated with an increasing risk of occurrence of stroke 2 . These findings were not described for the recurrence study.…”

Section: Discussionmentioning

confidence: 99%

“…Amplification of MTHFR genes was performed by restriction fragment length polymorphism (RFLP). The polymorphisms of FVL and prothrombin G20210A mutation were detected separately by allele‐specific polymerase chain reaction (AS‐PCR) 2 …”

Section: Methodsmentioning

confidence: 99%

“…Arterial ischemic stroke (AIS) in adults is a serious medical problem due to its potential socioeconomic consequences 1 . The risk factors for the first stroke have been extensively studied 2,3 . Nevertheless, information on what specific factors may predict recurrent events in adults is limited.…”

Section: Introductionmentioning

confidence: 99%

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Traditional risk factors and combined genetic markers of recurrent ischemic stroke in adults

Mbarek

Sakka

Megdiche

et al. 2021

Journal of Thrombosis and Haemostasis

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Background The involvement of traditional risk factors and combined genetic markers of recurrent arterial ischemic stroke (AIS) in adults remains unclear. Objective This study aims to determine significant clinical and genetic factors of AIS recurrence, and to investigate the combined effect of genotypes on the occurrence of a second cerebral ischemic attack. Methods We investigated a cohort study of AIS patients (18–50 years old) followed in the neurology department over 5 years. Traditional and genetic risk factors were carried through a multivariable logistic regression model. We used a Cox proportional hazard model for identifying predictors of recurrence. Results Two hundred and seventy patients were enrolled in our study. The risk of AIS recurrence was 36.2% within 5 years. The potential risk of recurrence of AIS increased with traditional and genetic risk factors such as hypertension, diabetes mellitus, heart failure, and family history of cerebrovascular diseases. This risk increased with increasing number of genetic factors. The hazard ratio (HR) was 0.66 (95% confidence interval [CI] 0.97–2.67) for the subject with one genetic factor, 1.61 (95% CI 0.97–2.25) for combined methylenetetrahydrofolate reductase (MTHFR) polymorphisms, and 2.57 (95% CI 1.32–4.99) for combined factor V Leiden (FVL) and MTHFR polymorphisms (677 or 1298). The HR for the three polymorphisms combined was 6.04 (95% CI 2.40–15.16). Conclusions Our findings suggest that cumulative effect of both traditional and common genetic risk factors was associated with recurrence of ischemic stroke. We demonstrated for the first time that a combined genotype FVL/MTHFR profile increase the risk of a second cerebral ischemic attack.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Traditional risk factors and combined genetic markers of recurrent ischemic stroke in adults

Mbarek

Sakka

Megdiche

et al. 2021

Journal of Thrombosis and Haemostasis

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“…After duplicates were excluded, we assessed the titles and abstracts of the records and rejected articles that did not meet the inclusion criteria. At the end, there were 104 eligible studies in total—42 for FVL [ 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 ], 30 for prothrombin [ 15 , 17 , 18 , 19 , 21 , 22 , 23 , 24 , 27 , 28 , 31 , 32 , 33 , 34 , ...…”

Section: Resultsmentioning

confidence: 99%

Factor V Leiden, Factor II, Protein C, Protein S, and Antithrombin and Ischemic Strokes in Young Adults: A Meta-Analysis

Tsalta-Mladenov

Levkova

Andonova

2022

Genes

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Ischemic strokes are one of the leading causes of death worldwide. The aim of this meta-analysis is to elaborate on the role of inherited predisposition to thrombophilia in the etiology of ischemic strokes in young adults. The keywords factor V Leiden (FVL), factor II, prothrombin (PT), protein C (PC), protein S (PS), antithrombin (AT), ischemic stroke, and young were used to search different databases. We selected studies with participants who were between 18 and 65 years. A total of 104 studies were eligible for inclusion in the meta-analysis. All the studied genetic markers were risk factors for ischemic stroke according to our results (FVL OR = 1.74; PT OR = 1.95; PC OR = 10.20; PS OR = 1.74; AT OR = 3.47; p < 0.05). There was moderate heterogeneity for most of the results, and subgroup analyses were conducted by dividing the studies according to the geographic location, gender ratio, and selection criteria of the performed study. There were no significant differences between the groups, but different geographic location was a probable source of heterogeneity. All of the studied markers—FVL, prothrombin, PC, PS, and AT—were significantly associated with increased risk of ischemic stroke in young adults and, if tested, could improve the quality of care.

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“…По данным 68 исследований, в которых по совокупности приняли участие 11 916 пациентов с ИИ и 96 057 лиц контрольных групп, у первых чаще всего встречались молекулярно-генетические полиморфизмы фактора V Лейдена, мутации протромбина G20210A, дефицит белка С, белка S. Наследственные тромбофилии, вызванные данными нарушениями, связаны с повышенным риском развития ИИ по лакунарному и/или атеротромботическому подтипу. ИИ у людей молодого возраста встречается реже, чем у пожилых, но лежащие в его основе патогенез и факторы риска более многогранны [15]. Согласно полученным нами результатам и данным литературы приобретенные и наследственные тромбофилии, обусловленные молекулярно-генетическим полиморфизмом генов МТГФР (C677T и A1298C), фактора V Лейдена, протромбина G20210A, обладают синергическим, тромбогенным эффектом в патогенезе ИИ.…”

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Mathematical analysis of the manifestations of thrombophilia in patients with the consequences of ischemic strokes

Никитина

Bochkov

Баранцевич

et al. 2021

jour

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Наследственные и приобретенные тромбофилии являются причиной 10 % криптогенных ишемических инсультов (ИИ), чаще у людей молодого возраста [1-4]. Метаболические тромбофилии (МТ) представляют собой независимый фактор риска развития атеросклероза у пациентов [5]. В настоящее время авторы ис-следований не пришли к выводу о доминантной значимости влияния наследственных тромбофилий, в частности гипергомоцистеинемии, на формирование криптогенного ИИ [6]. Холестерин -многогранная молекула, участвующая в формировании мембран клеток и выполняющая функции кофактора в метаболических процес-А т е р о с к л е р о з 2021 Научно-практический журнал Т. 17, № 2

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

Cited by 8 publications

References 48 publications

Traditional risk factors and combined genetic markers of recurrent ischemic stroke in adults

Traditional risk factors and combined genetic markers of recurrent ischemic stroke in adults

Factor V Leiden, Factor II, Protein C, Protein S, and Antithrombin and Ischemic Strokes in Young Adults: A Meta-Analysis

Mathematical analysis of the manifestations of thrombophilia in patients with the consequences of ischemic strokes

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