Methylenetetrahydrofolate Reductase (C677T and A1298C) Polymorphisms, Hyperhomocysteinemia, and Ischemic Stroke in Tunisian Patients

Laboratory of Molecular Biology, Department of Hematology, Military Hospital, Tunisia. Electronic address: .
Journal of stroke and cerebrovascular diseases: the official journal of National Stroke Association (Impact Factor: 1.67). 05/2013; 22(4):465-9. DOI: 10.1016/j.jstrokecerebrovasdis.2013.03.011
Source: PubMed


The present study evaluated the role of the methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C gene polymorphisms and correlated these results with plasma homocysteine (Hcy) levels in Tunisian ischemic stroke (IS) patients.
Overall, 84 patients with IS were included and compared with 100 healthy controls. The most common stroke risk factors were investigated. Fasting plasma Hcy levels were measured. Genotyping of the MTHFR C677T and A1298 polymorphisms was studied by polymerase chain reaction.
Aside from tobacco and alcohol use, the other studied factors were significant risk factors for IS. Mean plasma Hcy levels were significantly higher in IS patients than in controls (16.1 ± 8.28 μmol/L versus 8.76 ± 3.48 μmol/L, P < 10(-3)). Significant associations were found with both the MTHFR 677(CT + TT) and 1298 (AC + CC) genotypes in comparison with controls (P < 10(-3)). A significant synergistic interaction was also found with the double heterozygote MTHFR 677CT/1298AC (P < 10(-3)). Homocysteine levels were significantly higher in IS patients with the MTHFR C677T variant (CT and TT genotypes) (P < 10(-3)); however, the difference was not significant with the MTHFR A1298C variant (AC and CC genotypes) (P = .31).
The MTHFR C677T and A1298 polymorphisms (individually or in concert) and hyperhomocysteinemia represent important risk factors for IS. Elevated Hcy levels were found to be associated with the MTHFR C677T variant; however, no significant association was found with the MTHFR A1298C variant.

13 Reads
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: The results ofMTHFR gene C(677)-->T (rs1801133) polymorphism determined in 170 patients with ischemic atherothrombotic stroke (IATS) and 124 healthy subjects (control group) are presented in the paper. It has been shown that in patients with IATS, the frequencies of main homozygotes (CC), heterozygotes (CT) and minor homozygotes (TT) are 52.4, 35.9, 11.8% (in control--46.0, 48.4, 5.6%, P = 0.044 by chi2-test). TT homozygotes have a greater chance of developing IATS than carriers of main C-allele (CT + CC) (OR = 2.3, CI = 0.911-5.449, P = 0.049). In the representatives of the Ukrainian population there is a relationship between the frequency of MTHFR gene C(677)-->T polymorphism genotypes and the risk of IATS. This connection is manifested in male patients, in persons with normal blood pressure, and in people who do not have the habit of smoking. The sex of the patients, body mass index, blood pressure and smoking affect the level of the studied polymorphism association with stroke.
    Full-text · Article · Jan 2014 · Fiziologicheskiń≠ zhurnal
  • [Show abstract] [Hide abstract]
    ABSTRACT: Aims: To compare the performance of two assays used for the detection of mutations/polymorphisms in the Factor V, Factor II, and methylenetetrahydrofolate reductase genes among patients referred for the management of a thrombotic event. Materials and methods: We tested 40 different patient samples using two assays, the ViennaLab FV-PTH-MTHFR StripAssay and the Cepheid Xpert HemosIL. Results: The two assays were 100% concordant in their produced results with no samples failing the testing procedures in both. Conclusion: This is the first report to evaluate the performance of the ViennaLab FV-PTH-MTHFR StripAssay and the Cepheid Xpert HemosIL. Both assays can be introduced to the operation of molecular diagnostic laboratories to cover the referrals from different disciplines, especially in tertiary care centers with emergency departments.
    No preview · Article · Jan 2014 · Genetic Testing and Molecular Biomarkers
  • [Show abstract] [Hide abstract]
    ABSTRACT: Stroke is a leading cause of death and serious long-term disability. Ischemic stroke is the major subtype of stroke. Currently, its diagnosis is mainly dependent upon clinical symptoms and neuroimaging techniques. Despite these clinical and imaging modalities, often strokes are not recognized after initial onset. As early intervention of medical or surgical therapy is often associated with improved outcomes, there is an urgent need to improve the speed and accuracy of stroke diagnosis. Stroke is a complex pathophysiological process involving; energy failure, imbalance of ion homeostasis, acidosis, intracellular calcium overload, neuronal excitotoxicity, free radical-mediated lipid oxidation, inflammatory cell infiltration, and glial cell activation. These events ultimately lead to neuronal apoptotic cell death or necrosis. In this review, we have summarized the serum biomarkers according to the pathophysiological processes of stroke, which have been intensively studied in clinical trials of stroke over the past five years, and also used Medline's 'related article' option to identify further articles. We focused on the potential biomarkers pertaining to vascular injury, metabolic changes, oxidative injury, and inflammation, and newly studied biomarkers, and discussed how these biomarkers could be used for the diagnosis or determining the prognosis of stroke.
    No preview · Article · Jan 2014 · Expert Review of Neurotherapeutics
Show more