Methylenetetrahydrofolate Reductase (MTHFR C677T) Polymorphism in Sudanese Patients with Deep Vein Thrombosis
DOI:
https://doi.org/10.7439/ijbr.v6i5.2023Abstract
Deep vein thrombosis (DVT) is a common cause of morbidity and mortality, particularly in older people. Many genetic polymorphisms are considered as a risk factor of Hypercoagulability in DVT. MTHFR C677T polymorphism is reported to be associated with hyperhomocysteinemia through its inability to convert homocystein to methionnine which lead to hypercoagulable state that may promote DVT. The aim of this study was to examine the association of MTHFR (C677T) polymorphism with the risk of DVT in Sudan. The study included 50 DVT patients, their MTHFR C677T genotype frequencies (detected by PCR/RFLP) and haematological charecteristics (measured by Sysmex KX-21N) were determined and compared with 50 age and sex matched normal subjects as control. Low frequency of mutant MTHFR C677T genotype with 0% TT genotype (homozygote) and 12% CT (heterozygote) was observed. Our study showed a statistically insignifiDownloads
References
Go AS, Mozaffarian D, Roger VL, Benjamin EJ, Berry JD, Borden WB, Bravata DM, et al. Heart disease and stroke statistics--2013 update:a report from the American Heart Association. Circulation 2013; 127: e6-e245.
Silverstein M, Heit J, Mohr D, Petterson T, O
Hyers TM. Venous thromboembolism. The American Journal of Respiratory and Critical Care Medicine.1999; 159(1):1
L
Esmon CT. Basic mechanisms and pathogenesis of venous thrombosis. Blood Reviews 2009; 23:225
Baykal Y, Ozet G, Kocabalkan F. Ven
Balc? D, Hazinedaro?lu S. Derinventrombozu; epidemiyoloji, risk fakt
Anderson FA, Spencer FA. Risk factors for venous thromboembolism. Circulation. 2003; 107:9
Bansal P. Factor V Leiden and MTHFR mutations as a combined risk factor for hypercoagulability in referred Patients population from Western India. Molecular Cytogenetics 2014; 7(Suppl 1): P28.
Goyette P, Sumner JS, Milos R, Duncan AM, Rosenblatt DS, Matthews RG, Rosen R. Human methylenetetrahydrofolate reductase: isolation of cDNA mapping and mutation identification. Nat. Genet. 1994; 7: 551.
Fodinger M, H
Schneider JA, Rees DC, Liu YT, Clegg JB. Worldwide distribution of a common methylenetetrahydrofolate reductase mutation. Am. J. Hum. Genet. 1998; 62: 1258
Cristina H, Eva C. Hyper homocysteinemia and methylenetetrahydrofolate reductase gene polymorphism C677T: risk factors for venous and arterial thrombosis. Rom. J. Biochem.2013; 50: 29
Quere I, Perneger TV, Zittoun J, Bellet H, Gris JC, Daures JP, et al. Red blood cell methylfolate and plasma homocysteine as risk factors for venous thromboembolism: a matched case-control study. Lancet. 2002; 359:747
Kupeli E, Verdi H, Simsek A, Atac FB, Eyuboglu FO. Genetic Mutations in Turkish Population with Pulmonary Embolism and Deep Venous Thrombosis. Clin. Appl. Thromb. Hemost.2011; 6: 87
Bezemer ID, Doggen CJ, Vos HL, Rosendaal FR. No association between the common MTHFR 677C->T polymorphism and venous thrombosis: results from the MEGA study. Arch. Intern. Med. 2007; 5: 497
Naess IA, Christiansen SC, Romundstad PR, Cannegieter SC, Blom HJ, Rosendaal FR, Hammerstr
Sadewa AH, Sunarti, Sutomo R, Hayashi C, Lee MJ, Ayaki H, Sofro AM, Matsuo M, Nishio H. The C677T Mutation in the Methylenetetrahydrofolate Reductase Gene among the Indonesian Javanese Population. Kobe J. Med. Sci. 2002; 48:137-144.
Franco RF, Araujo AG, Guerreiro JF, Elion J, Zago MA. Analysis of the 677 CT mutation of the methylenetetrahydrofolate reductase gene in different ethnic groups. Thromb Haemostasis. 1998; 79:119-121.
Annichino-Bizzacchi JM, Costa FF. Prevalence of the mutation C677T in the methylenetetrahydrofolate Reductase gene among distinct ethnic groups in Brazil. Am J Med Genet 1998; 78: 332- 335.
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