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Methylenetetrahydrofolate reductase gene polymorphisms are associated with ischemic and hemorrhagic stroke: Dual effect of MTHFR polymorphisms C677T and A1298C.
Brain Res Bull. 2006 Dec 11; 71(1-3):45-50.BR

Abstract

Hyperhomocysteinemia is an independent risk factor for ischemic stroke. The enzyme methylenetetrahydrofolate reductase (MTHFR) plays a critical role in modulating the levels of plasma homocysteine. Two polymorphisms in the MTHFR gene, C677T, A1298C result in reduced enzyme activity. The mechanisms of ischemic and hemorrhagic stroke are not well understood. Although controversial, previous studies have shown evidence of causality of both stroke subtypes in patients with methylenetetrahydrofolate reductase gene polymorphisms. Therefore, we examined whether the C677T and A1298C polymorphisms of MTHFR gene are genetic risk factors for both ischemic and hemorrhagic stroke in a Turkish Caucasian population. In a case-control study, 120 total unrelated stroke patients (92 ischemic stroke, 28 hemorrhagic stroke), and 259 healthy controls were genotyped for C677T and A1298C polymorphisms of the MTHFR gene using a PCR-RFLP based-method. The MTHFR 1298C allele (chi(2)=8.589; P=0.014), C1298C genotype (OR=2.544; P=0.004), and C677C/C1298C compound genotype (OR=3.020; P=0.001) were associated with overall stroke. The MTHFR 1298C allele (chi(2)=11.166; P=0.004), C1298C genotype (OR=2.950; P=0.001), and C677C/C1298C compound genotype (OR=3.463, P=0.0001) were strongly associated with ischemic stroke. Interestingly however, the MTHFR 677T allele (chi(2)=6.033; P=0.049), T677T genotype (OR=3.120; P=0.014), and T677T/A1298A compound genotype (OR=4.211; P=0.002) were associated with hemorrhagic stroke. In conclusion, the C677T and A1298C polymorphisms of the MTHFR gene are genetic risk factors for hamorrhagic and ischemic stroke respectively, independent of other atherothrombotic risk factors.

Authors+Show Affiliations

Department of Medical Biology and Genetics, Faculty of Medicine, University of Kocaeli, Umuttepe, 41380 Kocaeli, Turkey. alisazci@gmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

17113927

Citation

Sazci, Ali, et al. "Methylenetetrahydrofolate Reductase Gene Polymorphisms Are Associated With Ischemic and Hemorrhagic Stroke: Dual Effect of MTHFR Polymorphisms C677T and A1298C." Brain Research Bulletin, vol. 71, no. 1-3, 2006, pp. 45-50.
Sazci A, Ergul E, Tuncer N, et al. Methylenetetrahydrofolate reductase gene polymorphisms are associated with ischemic and hemorrhagic stroke: Dual effect of MTHFR polymorphisms C677T and A1298C. Brain Res Bull. 2006;71(1-3):45-50.
Sazci, A., Ergul, E., Tuncer, N., Akpinar, G., & Kara, I. (2006). Methylenetetrahydrofolate reductase gene polymorphisms are associated with ischemic and hemorrhagic stroke: Dual effect of MTHFR polymorphisms C677T and A1298C. Brain Research Bulletin, 71(1-3), 45-50.
Sazci A, et al. Methylenetetrahydrofolate Reductase Gene Polymorphisms Are Associated With Ischemic and Hemorrhagic Stroke: Dual Effect of MTHFR Polymorphisms C677T and A1298C. Brain Res Bull. 2006 Dec 11;71(1-3):45-50. PubMed PMID: 17113927.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Methylenetetrahydrofolate reductase gene polymorphisms are associated with ischemic and hemorrhagic stroke: Dual effect of MTHFR polymorphisms C677T and A1298C. AU - Sazci,Ali, AU - Ergul,Emel, AU - Tuncer,Nese, AU - Akpinar,Gurler, AU - Kara,Ihsan, Y1 - 2006/08/15/ PY - 2006/04/28/received PY - 2006/07/21/revised PY - 2006/07/21/accepted PY - 2006/11/23/pubmed PY - 2007/2/3/medline PY - 2006/11/23/entrez SP - 45 EP - 50 JF - Brain research bulletin JO - Brain Res. Bull. VL - 71 IS - 1-3 N2 - Hyperhomocysteinemia is an independent risk factor for ischemic stroke. The enzyme methylenetetrahydrofolate reductase (MTHFR) plays a critical role in modulating the levels of plasma homocysteine. Two polymorphisms in the MTHFR gene, C677T, A1298C result in reduced enzyme activity. The mechanisms of ischemic and hemorrhagic stroke are not well understood. Although controversial, previous studies have shown evidence of causality of both stroke subtypes in patients with methylenetetrahydrofolate reductase gene polymorphisms. Therefore, we examined whether the C677T and A1298C polymorphisms of MTHFR gene are genetic risk factors for both ischemic and hemorrhagic stroke in a Turkish Caucasian population. In a case-control study, 120 total unrelated stroke patients (92 ischemic stroke, 28 hemorrhagic stroke), and 259 healthy controls were genotyped for C677T and A1298C polymorphisms of the MTHFR gene using a PCR-RFLP based-method. The MTHFR 1298C allele (chi(2)=8.589; P=0.014), C1298C genotype (OR=2.544; P=0.004), and C677C/C1298C compound genotype (OR=3.020; P=0.001) were associated with overall stroke. The MTHFR 1298C allele (chi(2)=11.166; P=0.004), C1298C genotype (OR=2.950; P=0.001), and C677C/C1298C compound genotype (OR=3.463, P=0.0001) were strongly associated with ischemic stroke. Interestingly however, the MTHFR 677T allele (chi(2)=6.033; P=0.049), T677T genotype (OR=3.120; P=0.014), and T677T/A1298A compound genotype (OR=4.211; P=0.002) were associated with hemorrhagic stroke. In conclusion, the C677T and A1298C polymorphisms of the MTHFR gene are genetic risk factors for hamorrhagic and ischemic stroke respectively, independent of other atherothrombotic risk factors. SN - 0361-9230 UR - https://www.unboundmedicine.com/medline/citation/17113927/Methylenetetrahydrofolate_reductase_gene_polymorphisms_are_associated_with_ischemic_and_hemorrhagic_stroke:_Dual_effect_of_MTHFR_polymorphisms_C677T_and_A1298C_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0361-9230(06)00242-5 DB - PRIME DP - Unbound Medicine ER -