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Methylenetetrahydrofolate reductase (C677T and A1298C) polymorphisms, hyperhomocysteinemia, and ischemic stroke in Tunisian patients.
J Stroke Cerebrovasc Dis. 2013 May; 22(4):465-9.JS

Abstract

OBJECTIVE

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.

METHODS

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.

RESULTS

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).

CONCLUSION

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.

Authors+Show Affiliations

Laboratory of Molecular Biology, Department of Hematology, Military Hospital, Tunisia. fnajiba@yahoo.frNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

23642756

Citation

Fekih-Mrissa, Najiba, et al. "Methylenetetrahydrofolate Reductase (C677T and A1298C) Polymorphisms, Hyperhomocysteinemia, and Ischemic Stroke in Tunisian Patients." Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, vol. 22, no. 4, 2013, pp. 465-9.
Fekih-Mrissa N, Mrad M, Klai S, et al. Methylenetetrahydrofolate reductase (C677T and A1298C) polymorphisms, hyperhomocysteinemia, and ischemic stroke in Tunisian patients. J Stroke Cerebrovasc Dis. 2013;22(4):465-9.
Fekih-Mrissa, N., Mrad, M., Klai, S., Mansour, M., Nsiri, B., Gritli, N., & Mrissa, R. (2013). Methylenetetrahydrofolate reductase (C677T and A1298C) polymorphisms, hyperhomocysteinemia, and ischemic stroke in Tunisian patients. Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association, 22(4), 465-9. https://doi.org/10.1016/j.jstrokecerebrovasdis.2013.03.011
Fekih-Mrissa N, et al. Methylenetetrahydrofolate Reductase (C677T and A1298C) Polymorphisms, Hyperhomocysteinemia, and Ischemic Stroke in Tunisian Patients. J Stroke Cerebrovasc Dis. 2013;22(4):465-9. PubMed PMID: 23642756.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Methylenetetrahydrofolate reductase (C677T and A1298C) polymorphisms, hyperhomocysteinemia, and ischemic stroke in Tunisian patients. AU - Fekih-Mrissa,Najiba, AU - Mrad,Meriem, AU - Klai,Sarra, AU - Mansour,Malek, AU - Nsiri,Brahim, AU - Gritli,Nasreddine, AU - Mrissa,Ridha, PY - 2012/09/22/received PY - 2013/01/17/revised PY - 2013/03/09/accepted PY - 2013/5/7/entrez PY - 2013/5/7/pubmed PY - 2013/12/18/medline SP - 465 EP - 9 JF - Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association JO - J Stroke Cerebrovasc Dis VL - 22 IS - 4 N2 - OBJECTIVE: 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. METHODS: 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. RESULTS: 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). CONCLUSION: 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. SN - 1532-8511 UR - https://www.unboundmedicine.com/medline/citation/23642756/Methylenetetrahydrofolate_reductase__C677T_and_A1298C__polymorphisms_hyperhomocysteinemia_and_ischemic_stroke_in_Tunisian_patients_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1052-3057(13)00080-3 DB - PRIME DP - Unbound Medicine ER -