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

Metabolic Brain Disease - Tập 36 Số 3 - Trang 421-428 - 2021
Lamia Mbarek1, Salma Sakka1, Fatma Meghdiche2, Dhaker Turki1, khadija maalla1, Mariem Dammak1, Choumous Kallel2, Chokri Mhiri3
1Laboratory of Neurogenetics, Parkinson’s Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia
2Laboratory of Hematology, Habib Bourguiba University Hospital, University of Monastir, Monastir, Tunisia
3Clinical Investigation Center (CIC), Habib Bourguiba University Hospital, Sfax, Tunisia

Tóm tắt

Từ khóa


Tài liệu tham khảo

Abhinand PA, Manikandan M, Mahalakshmi R, Ragunath PK (2017) Meta-analysis study to evaluate the association of MTHFR C677T polymorphism with risk of ischemic stroke. Bioinformation 13(6):214–219. https://doi.org/10.6026/97320630013214

Atadzhanov M, Mwaba MH, Mukomena PN, Lakhi S, Rayaprolu S, Ross OA, Meschia JF (2013) Association of the APOE, MTHFR and ACE Genes Polymorphisms and Stroke in Zambian Patients. Neurol Int 5(4):e20. https://doi.org/10.4081/ni.2013.e20

Bejot Y, Caillier M, Rouaud O, Benatru I, Maugras C, Osseby GV, Giroud M (2007) [Epidemiology of strokes. Impact on the treatment decision]. Presse Med 36(1 Pt 2):117–127. https://doi.org/10.1016/j.lpm.2006.11.006

Boehme AK, Esenwa C, Elkind MS (2017) Stroke Risk Factors, Genetics, and Prevention. Circ Res 120(3):472–495. https://doi.org/10.1161/CIRCRESAHA.116.308398

Botto N, Spadoni I, Giusti S, Ait-Ali L, Sicari R, Andreassi MG (2007) Prothrombotic mutations as risk factors for cryptogenic ischemic cerebrovascular events in young subjects with patent foramen ovale. Stroke 38(7):2070–2073. https://doi.org/10.1161/STROKEAHA.106.480863

Ceelie H, Spaargaren-van Riel CC, Bertina RM, Vos HL (2004) G20210A is a functional mutation in the prothrombin gene; effect on protein levels and 3’-end formation. J Thromb Haemost 2(1):119–127. https://doi.org/10.1111/j.1538-7836.2003.00493.x

Chang G, Kuai Z, Wang J, Wu J, Xu K, Yuan Y, Hu Y (2019) The association of MTHFR C677T variant with increased risk of ischemic stroke in the elderly population: a meta-analysis of observational studies. BMC Geriatrics 19(1)

Chiasakul T, De Jesus E, Tong J, Chen Y, Crowther M, Garcia D,.. . Cuker A (2019) Inherited Thrombophilia and the Risk of Arterial Ischemic Stroke: A Systematic Review and Meta-Analysis. J Am Heart Assoc 8(19):e012877. https://doi.org/10.1161/JAHA.119.012877

Chugh C (2019) Acute Ischemic Stroke: Management Approach. Indian J Crit Care Med 23(Suppl 2):S140–S146. https://doi.org/10.5005/jp-journals-10071-23192

Coen Herak D, Lenicek Krleza J, Radic Antolic M, Horvat I, Djuranovic V, Topic Z, Zadro R (2017) Association of polymorphisms in coagulation factor genes and enzymes of homocysteine metabolism with arterial ischemic stroke in children. Clin Appl Thromb Hemost 23(8):1042–1051. https://doi.org/10.1177/1076029616672584

Cronin S, Furie KL, Kelly PJ (2005) Dose-related association of MTHFR 677T allele with risk of ischemic stroke: evidence from a cumulative meta-analysis. Stroke 36(7):1581–1587. https://doi.org/10.1161/01.STR.0000169946.31639.af

Daraban AM, Șerban M, Ginghina APT,VU,C, R. A. P., ... R. O. J (2016) Thrombophilia genetic testing in Romanian young women with acute thrombotic events: role of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and A1298C polymorphisms. https://doi.org/10.1515/rrlm-2016-0032

de Paiva Bezerra R, de Miranda Alves MA, Conforto AB, Rodrigues DLG, Silva GS (2017) Etiological classification of stroke in patients with chagas disease using TOAST, causative classification system TOAST, and ASCOD phenotyping. J Stroke Cerebrovasc Dis 26(12):2864–2869. https://doi.org/10.1016/j.jstrokecerebrovasdis.2017.07.007

De Stefano V, Chiusolo P, Paciaroni K, Casorelli I, Rossi E, Molinari M,.. . Leone G (1998) Prothrombin G20210A mutant genotype is a risk factor for cerebrovascular ischemic disease in young patients. Blood 91(10):3562–3565

Dragoni F, Chiarotti F, Rosano G, Simioni P, Tormene D, Mazzucconi MG,.. . Avvisati G (2011) Thrombophilic screening in young patients (< 40 years) with idiopathic ischemic stroke: a controlled study. Thromb Res 127(2):85–90. https://doi.org/10.1016/j.thromres.2010.11.013

Dribnokhodova OP, Korchagin VI, Mironov KO, Dunaeva EA, Titkov AV, Akselrod EV,.. . Shipulin GA (2019) [A comparative analysis of allele frequencies of rs1801133 and rs1801131 of MTHFR in patients with stroke and healthy people from the Moscow region]. Zh Nevrol Psikhiatr Im S S Korsakova 119(3. Vyp. 2):18–23. https://doi.org/10.17116/jnevro201911903218

Du X, Xiao L, Sun R, Li K, Liang L, Song L, Liu Z (2020) A prospective cohort study of MTHFR C677T gene polymorphism and its influence on the therapeutic effect of homocysteine in stroke patients with hyperhomocysteinemia. BMC Neurol 20(1):128. https://doi.org/10.1186/s12883-020-01701-8

Ellis C (2010) Stroke in young adults. Disabil Health J 3(3):222–224. https://doi.org/10.1016/j.dhjo.2010.01.001

Fekih-Mrissa N, Berredjeb-Benslama D, Haggui A, Haouala H, Gritli N (2013a) Combination of factor V Leiden and MTHFR mutations in myocardial infarction. Ann Saudi Med 33(2):192–193. doi:10.5144/0256-4947.2012.01.7.1520

Fekih-Mrissa N, Mrad M, Klai S, Mansour M, Nsiri B, Gritli N, Mrissa R (2013b) Methylenetetrahydrofolate reductase (C677T and A1298C) polymorphisms, hyperhomocysteinemia, and ischemic stroke in Tunisian patients. J Stroke Cerebrovasc Dis 22(4):465–469. https://doi.org/10.1016/j.jstrokecerebrovasdis.2013.03.011

Frosst P, Blom HJ, Milos R, Goyette P, Sheppard CA, Matthews RG,.. . et al (1995) A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 10(1):111–113. https://doi.org/10.1038/ng0595-111

Hamedani AG, Cole JW, Mitchell BD, Kittner SJ (2010) Meta-analysis of factor V Leiden and ischemic stroke in young adults: the importance of case ascertainment. Stroke 41(8):1599–1603. https://doi.org/10.1161/STROKEAHA.110.581256

Han IB, Kim OJ, Ahn JY, Oh D, Hong SP, Huh R,.. . Kim NK (2010) Association of methylenetetrahydrofolate reductase (MTHFR 677C > T and 1298A > C) polymorphisms and haplotypes with silent brain infarction and homocysteine levels in a Korean population. Yonsei Med J 51(2):253–260. https://doi.org/10.3349/ymj.2010.51.2.253

Hashemi SM, Ramroodi N, Fard A, Talebian H, Haghighi Rohani S, Rezaei M, Salimi M, S (2019) Common Variations in Prothrombotic Genes and Susceptibility to Ischemic Stroke in Young Patients: A Case-Control Study in Southeast Iran. Medicina, 55(2). https://doi.org/10.3390/medicina55020047

Hiraoka M, Kagawa Y (2017) Genetic polymorphisms and folate status. Congenit Anom (Kyoto) 57(5):142–149. https://doi.org/10.1111/cga.12232

Janssen AW, de Leeuw FE, Janssen MC (2011) Risk factors for ischemic stroke and transient ischemic attack in patients under age 50. J Thromb Thrombolysis 31(1):85–91. https://doi.org/10.1007/s11239-010-0491-3

Kang S, Wu Y, Liu L, Zhao X, Zhang D (2014) Association of the A1298C polymorphism in MTHFR gene with ischemic stroke. J Clin Neurosci 21(2):198–202. https://doi.org/10.1016/j.jocn.2013.04.017

Khan NI, Naz L, Mushtaq S, Rukh L, Ali S, Hussain Z (2009) Ischemic stroke: prevalence of modifiable risk factors in male and female patients in Pakistan. Pak J Pharm Sci 22(1):62–67

Kissela BM, Khoury JC, Alwell K, Moomaw CJ, Woo D, Adeoye O,.. . Kleindorfer DO (2012) Age at stroke: temporal trends in stroke incidence in a large, biracial population. Neurology 79(17):1781–1787. https://doi.org/10.1212/WNL.0b013e318270401d

Kouame-Assouan A-E, Gnazegbo A, Karidioula A, Bony KE (2018) Obésité et AVC. Revue Neurologique 174:S175. https://doi.org/10.1016/j.neurol.2018.02.043

Kumar A, Misra S, Sagar R, Kumar P, Yadav AK, Talwar P,.. . Prasad K (2017) Relationship between Factor V Leiden Gene Variant and Risk of Ischemic Stroke: A Case-Control Study. Ann Indian Acad Neurol 20(3):284–288. https://doi.org/10.4103/aian.AIAN_31_17

Kumar A, Sharma R, Misra S, Nath M, Kumar P (2020) Relationship between methylenetetrahydrofolate reductase (MTHFR) gene (A1298C) polymorphism with the risk of stroke: A systematic review and meta-analysis. Neurol Res 42(11):913–922. https://doi.org/10.1080/01616412.2020.1798107

Li A, Shi Y, Xu L, Zhang Y, Zhao H, Li Q,.. . He Y (2017) A possible synergistic effect of MTHFR C677T polymorphism on homocysteine level variations increased risk for ischemic stroke. Medicine 96(51):e9300. https://doi.org/10.1097/MD.0000000000009300

Lopaciuk S, Bykowska K, Kwiecinski H, Mickielewicz A, Czlonkowska A, Mendel T,.. . Jedrzejowska H (2001) Factor V Leiden, prothrombin gene G20210A variant, and methylenetetrahydrofolate reductase C677T genotype in young adults with ischemic stroke. Clin Appl Thromb Hemost 7(4):346–350. https://doi.org/10.1177/107602960100700418

Lv Q, Lu J, Wu W, Sun H, Zhang J (2013) Association of the methylenetetrahydrofolate reductase gene A1298C polymorphism with stroke risk based on a meta-analysis. Genet Mol Res 12(4):6882–6894. https://doi.org/10.4238/2013.December.19.7

Pahus SH, Hansen AT, Hvas AM (2016) Thrombophilia testing in young patients with ischemic stroke. Thromb Res 137:108–112. https://doi.org/10.1016/j.thromres.2015.11.006

Robert J, Kim M, a and Becker RC, MDb Worcester, Mass, and Durham NC (2003) Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: A meta-analysis of published studies. Curric Cardiol. https://doi.org/10.1016/S0002-8703(03)00519-2

Shi C, Kang X, Wang Y, Zhou Y (2008) The coagulation factor V Leiden, MTHFRC677T variant and eNOS 4ab polymorphism in young Chinese population with ischemic stroke. Clin Chim Acta 396(1–2):7–9. https://doi.org/10.1016/j.cca.2008.06.009

Shuo Li EWR, Han F-Y, Zheng H, Zou L, Xu Y, Xie Y-G (2019) MTHFR677T and 1298C Play Independent but Opposite Effects in Stroke - Additive Co-Effect of two Intragenic Alleles. Biomed J Sci Tech Res. https://doi.org/10.26717/BJSTR.2019.17.002954

Smajlovic D (2015) Strokes in young adults: epidemiology and prevention. Vasc Health Risk Manag 11:157–164. https://doi.org/10.2147/VHRM.S53203

Stack CA, Cole JW (2018) Ischemic stroke in young adults. Curr Opin Cardiol 33(6):594–604. https://doi.org/10.1097/HCO.0000000000000564

Tasdemir S, Erdem HB, Sahin I, Ozel L, Ozdemir G, Eroz R, Tatar A (2016). Correlation with Platelet Parameters and Genetic Markers of Thrombophilia Panel (Factor II g.20210G > A, Factor V, Leiden MTHFR (C677T, A1298C), PAI-1, beta-Fibrinogen, Factor XIIIA (V34L), Glycoprotein IIIa (L33P)) in Ischemic Strokes. Neuromolecular Med 18(2):170–176. https://doi.org/10.1007/s12017-016-8386-x

They-They TP, Battas O, Nadifi S (2013) Synergistic effect of MTHFR C677T and F2 G20210A polymorphisms on ischemic stroke. Neurosci Bull 29(6):725–730. https://doi.org/10.1007/s12264-013-1381-4

Tinelli C, Di Pino A, Ficulle E, Marcelli S, Feligioni M (2019) Hyperhomocysteinemia as a risk factor and potential nutraceutical target for certain pathologies. Front Nutr 6:49. https://doi.org/10.3389/fnut.2019.00049

Voetsch B, Damasceno BP, Camargo EC, Massaro A, Bacheschi LA, Scaff M,.. . Arruda VR (2000) Inherited thrombophilia as a risk factor for the development of ischemic stroke in young adults. Thromb Haemost 83(2):229–233

Wang X, Fu J, Li Q, Zeng D (2016) Geographical and ethnic distributions of the MTHFR C677T, A1298C and MTRR A66G gene polymorphisms in Chinese populations: a meta-analysis. PLoS One 11(4):e0152414. https://doi.org/10.1371/journal.pone.0152414

Xin XY, Song YY, Ma JF, Fan CN, Ding JQ, Yang GY, Chen SD (2009) Gene polymorphisms and risk of adult early-onset ischemic stroke: A meta-analysis. Thromb Res 124(5):619–624. https://doi.org/10.1016/j.thromres.2009.07.007

Zetterberg H, Regland B, Palmer M, Ricksten A, Palmqvist L, Rymo L,.. . Blennow K (2002) Increased frequency of combined methylenetetrahydrofolate reductase C677T and A1298C mutated alleles in spontaneously aborted embryos. Eur J Hum Genet 10(2):113–118. https://doi.org/10.1038/sj.ejhg.5200767

Zhang MJ, Hu ZC, Yin YW, Li BH, Liu Y, Liao SQ,.. . Zhang LL (2014) A meta-analysis of the relationship between MTHFR gene A1298C polymorphism and the risk of adult stroke. Cerebrovasc Dis 38(6):425–432. https://doi.org/10.1159/000369122