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首页> 外文期刊>Cellular Physiology and Biochemistry >Tagging Functional Polymorphism in 3’ Untranslated Region of Methylene Tetrahydrofolate Reductase and Risk of Ischemic Stroke
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Tagging Functional Polymorphism in 3’ Untranslated Region of Methylene Tetrahydrofolate Reductase and Risk of Ischemic Stroke

机译：亚甲基四氢叶酸还原酶3'非翻译区的标签功能多态性与缺血性中风的风险

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Background/Aims The association between genetic polymorphisms in the exon or untranslated region of the methylenetetrahydrofolate reductase gene (MTHFR) and the risk of human ischemic stroke (IS) has been well-documented. In this study, we focused on a polymorphism previously screened by high-throughput analysis and on its potential function in patients with IS Methods This hospital-based case-control study was conducted in 400 patients and 400 healthy volunteers. Genotyping was conducted using TaqMan probes. Potential interactions were predicted by multiple bioinformatics analysis. Relative expression levels of MTHFR were detected confirmed by dual-luciferase assay. Results The MTHFR polymorphism rs142884651 was significantly associated with a decreased risk of IS compared with the wild-type GA genotype (P = 0.02) and AA genotype (P = 0.001). According to bioinformatics analysis and luciferase assay, this polymorphism could attenuate the binding of let-7f and miR-196a (P = 0.021 and 0.019, respectively) leading to the accumulation of MTHFR and degradation of serum homocysteine, and resulting in a better IS outcome. Conclusion This study demonstrated that the MTHFR rs142884651 polymorphism is associated with a decreased risk of IS and may act as a biomarker of short-term outcome in patients with IS.
机译：背景/目的已经充分证明了亚甲基四氢叶酸还原酶基因（MTHFR）外显子或非翻译区的遗传多态性与人类缺血性中风（IS）的风险之间的关联。在这项研究中，我们集中于以前通过高通量分析筛选的多态性及其在IS患者中的潜在功能。方法该医院病例对照研究在400例患者和400名健康志愿者中进行。使用TaqMan探针进行基因分型。潜在的相互作用是通过多种生物信息学分析预测的。通过双荧光素酶测定法确认了MTHFR的相对表达水平。结果与野生型GA基因型（P = 0.02）和AA基因型（P = 0.001）相比，MTHFR多态性rs142884651与IS风险降低显着相关。根据生物信息学分析和萤光素酶分析，这种多态性可以减弱let-7f和miR-196a的结合（分别为P = 0.021和0.019），导致MTHFR的积累和血清同型半胱氨酸的降解，从而获得更好的IS结果。结论这项研究表明MTHFR rs142884651多态性与IS风险降低有关，并且可能是IS患者短期预后的生物标志物。

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