Relationship between MTHFR C677T, homocysteine, and ischemic stroke in a large sample of the Han Chinese population

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Abstract

Ischemic stroke, one of the prevalent causes of death and disability worldwide, is linked to environmental and genetic factors, including polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene involved in homocysteine metabolism. The present study aimed to explore the relationship between the MTHFR C677T variant, plasma homocysteine, and risk of developing large-artery atherosclerotic ischemic stroke (LAAIS) among Han Chinese. A population-based case-control study, which included 1810 patients with LAAIS and 1765 unrelated control subjects, was conducted. Compared to the controls, LAAIS patients had a significantly higher prevalence of hypertension, diabetes mellitus, smoking, and alcohol consumption (P CT>CC. In conclusion, our data demonstrate that, in spite of its low prevalence in both patients and controls (1.5% vs 0.8%), the MTHFR C677T variant could, at least in part, affect homocysteine levels and this, either alone or in combination with other factors, increases the risk of LAAIS.

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Jin, M., Wang, N., Li, X., Zhang, H., Zhou, J., Cong, M., … Qiu, C. (2022). Relationship between MTHFR C677T, homocysteine, and ischemic stroke in a large sample of the Han Chinese population. Medicine (United States), 101(38), E30562. https://doi.org/10.1097/MD.0000000000030562

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