Li Min, Fu Bing, Dong Wanli
Folia Neuropathol. 2018;56(4):301-307. doi: 10.5114/fn.2018.80863.
This study aims to investigate the correlation between the plasma homocysteine (Hcy) level and methylenetetrahydro-folate reductase (MTHFR) C677T polymorphism, and white matter lesions (WML). The plasma Hcy level and MTHFR C677T gene polymorphism in 104 patients with white matter lesions and 74 controls were measured. The severity of cerebral white matter was scored on the magnetic resonance imaging (MRI) images by the modified Scheltens scale (score of 0-30). The plasma Hcy level in the WML group was remarkably higher than that in the control group (p < 0.05), and the proportion of the patients with a high Hcy level in the WML group was notably higher than that in the control group (p < 0.05). Moreover, the patients with TT genotype in MTHFR gene had a significantly higher plasma Hcy level than those with CT or CC genotype. In addition, the plasma Hcy level in the patients with CT genotype was also significantly different from that in the patients with CC genotype (p < 0.05). The severity of cerebral white matter lesions among the patients with different genotypes in MTHFR gene was not significantly different (p > 0.05). The plasma Hcy level is positively correlated with WML and significantly correlated with C677T gene polymorphism in MTHFR gene. The severity of white matter lesions is not correlated with MTHFR C677T gene polymorphism.
本研究旨在探讨血浆同型半胱氨酸(Hcy)水平与亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性及脑白质病变(WML)之间的相关性。检测了104例脑白质病变患者和74例对照者的血浆Hcy水平及MTHFR C677T基因多态性。采用改良的Scheltens量表(评分0 - 30分)在磁共振成像(MRI)图像上对脑白质严重程度进行评分。WML组的血浆Hcy水平显著高于对照组(p < 0.05),且WML组高Hcy水平患者的比例显著高于对照组(p < 0.05)。此外,MTHFR基因TT基因型患者的血浆Hcy水平显著高于CT或CC基因型患者。另外,CT基因型患者的血浆Hcy水平与CC基因型患者也有显著差异(p < 0.05)。MTHFR基因不同基因型患者的脑白质病变严重程度无显著差异(p > 0.05)。血浆Hcy水平与WML呈正相关,且与MTHFR基因的C677T基因多态性显著相关。脑白质病变的严重程度与MTHFR C677T基因多态性无关。