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Int. J. Mol. Sci. 2014, 15(5), 8931-8940;

Tagging SNPs in the MTHFR Gene and Risk of Ischemic Stroke in a Chinese Population

Department of Neurosurgery, Tianjin First Center Hospital, Tianjin 300192, China
Department of Spine Surgery, Tianjin Hospital, Tianjin 300211, China
Department of Neurosurgery, Tianjin Third Central Hospital, Tianjin 300170, China
These authors contributed equally to this work.
Author to whom correspondence should be addressed.
Received: 10 March 2014 / Revised: 7 May 2014 / Accepted: 8 May 2014 / Published: 20 May 2014
(This article belongs to the Collection Human Single Nucleotide Polymorphisms and Disease Diagnostics)
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Stroke is currently the leading cause of functional impairments worldwide. Folate supplementation is inversely associated with risk of ischemic stroke. Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism. The aim of this study is to examine whether genetic variants in MTHFR gene are associated with the risk of ischemic stroke and fasting total serum homocysteine (tHcy) level. We genotyped nine tag SNPs in the MTHFR gene in a case-control study, including 543 ischemic stroke cases and 655 healthy controls in China. We found that subjects with the rs1801133 TT genotype and rs1801131 CC genotype had significant increased risks of ischemic stroke (adjusted odds ratio (OR) = 1.82, 95% confidence interval (CI): 1.27–2.61, p = 0.004; adjusted OR = 1.99, 95% CI: 1.12–3.56, p = 0.01) compared with subjects with the major alleles. Haplotype analysis also found that carriers of the MTHFR CTTCGA haplotype (rs12121543-rs13306553-rs9651118-rs1801133-rs2274976-rs1801131) had a significant reduced risk of ischemic stroke (adjusted OR = 0.53, 95% CI: 0.35–0.82) compared with those with the CTTTGA haplotype. Besides, the MTHFR rs1801133 and rs9651118 were significantly associated with serum levels of tHcy in healthy controls (p < 0.0001 and p = 0.02). These findings suggest that variants in the MTHFR gene may influence the risk of ischemic stroke and serum tHcy. View Full-Text
Keywords: ischemic stroke; MTHFR; polymorphism; homocysteine ischemic stroke; MTHFR; polymorphism; homocysteine
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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Zhou, B.-S.; Bu, G.-Y.; Li, M.; Chang, B.-G.; Zhou, Y.-P. Tagging SNPs in the MTHFR Gene and Risk of Ischemic Stroke in a Chinese Population. Int. J. Mol. Sci. 2014, 15, 8931-8940.

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