Department of Biochemistry, Basic Medical Sciences Block-II, Panjab University, Sector-25, Chandigarh, 160014, India.
Department of Neurosurgery, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Metab Brain Dis. 2018 Oct;33(5):1617-1624. doi: 10.1007/s11011-018-0268-5. Epub 2018 Jun 21.
Methylenetetrahydrofolate reductase (MTHFR) polymorphism (C677T, A1298C) has been implicated in increased plasma homocysteine (Hcy) levels. The present study was designed to investigate the association between MTHFR polymorphism and increased Hcy levels in subarachnoid haemorrhage (SAH) patients. A total of 150 subjects from North India were included in the study, comprising of 100 SAH patients and 50 healthy controls. Plasma Hcy levels was determined and MTHFR polymorphism (C677T, A1298C) was screened by High resolution melting (HRM) analysis. Plasma Hcy levels were found to be significantly higher (p < 0.001) in SAH patients than in healthy controls. No significant difference in the genotype and allele frequency of MTHFR A1298C was observed. However, frequency of MTHFR C677T genotype, CT (53% vs. 20%; p < 0.001) and TT (15% vs. 2%; p < 0.05) was significantly higher in SAH group as compared to healthy controls. The frequency of T allele (41.5% vs. 12%; p < 0.001) was also found to be higher in SAH patients in comparison to healthy controls. Furthermore, Hcy levels were higher in SAH patients with TT genotype than in patients having CT genotype, whereas CC genotype had lower Hcy levels. The study suggests that higher frequency of MTHFR C677T allele may contribute to etiopathology of SAH through increase in Hcy levels.
亚甲基四氢叶酸还原酶（MTHFR）多态性（C677T、A1298C）与血浆同型半胱氨酸（Hcy）水平升高有关。本研究旨在探讨 MTHFR 多态性与蛛网膜下腔出血（SAH）患者 Hcy 水平升高的关系。本研究共纳入 150 名来自印度北部的受试者，包括 100 名 SAH 患者和 50 名健康对照者。测定血浆 Hcy 水平，采用高分辨率熔解（HRM）分析筛查 MTHFR 多态性（C677T、A1298C）。结果发现，SAH 患者的血浆 Hcy 水平明显高于健康对照组（p<0.001）。MTHFR A1298C 基因型和等位基因频率无显著差异。然而，与健康对照组相比，SAH 组 MTHFR C677T 基因型、CT（53%比 20%；p<0.001）和 TT（15%比 2%；p<0.05）的频率显著升高。T 等位基因（41.5%比 12%；p<0.001）的频率也明显高于健康对照组。此外，与 CT 基因型相比，TT 基因型 SAH 患者的 Hcy 水平更高，而 CC 基因型的 Hcy 水平较低。该研究表明，MTHFR C677T 等位基因的高频率可能通过增加 Hcy 水平导致 SAH 的发病机制。
