Zhang Xin, Hou Chen, Liu Peng, Chen Li, Liu Yue, Tang Peng, Li Rui
Department of Neurology, Shaanxi Provincial People's Hospital, Xi'an, China.
Department of Neurology, The Third Affiliated Hospital of Xi'an Jiaotong University School of Medicine, Xi'an, China.
Front Neurol. 2019 Jan 9;9:1162. doi: 10.3389/fneur.2018.01162. eCollection 2018.
Vitamin B12 deficiency is regarded as the prevailing cause of subacute combined degeneration of the spinal cord (SCD). Nevertheless, the genetic predisposition to SCD remains unclear. The aim of this study was to explore the association between methylenetetrahydrofolate reductase gene () C677T polymorphism and SCD. We investigated C677T polymorphism in SCD patients and found that the distribution of C677T genotypes was significantly different between SCD patients and age-matched controls. Furthermore, the T allele frequency was markedly increased in SCD compared with the controls. In addition, the plasma homocysteine concentrations in subjects with the TT genotype were significantly elevated compared to those with the CC genotype. Logistic regression analysis results revealed that the C677T genotype (TT vs. CT and CC) and vitamin B12 deficiency were risk factors for SCD. Our findings indicate that the T allele of the C677T confers a strong genetic predisposition to SCD and provide evidence of an association between C677T polymorphism and SCD. These data reveal a potential mechanism underlying SCD.
维生素B12缺乏被认为是脊髓亚急性联合变性（SCD）的主要病因。然而，SCD的遗传易感性仍不清楚。本研究的目的是探讨亚甲基四氢叶酸还原酶基因（）C677T多态性与SCD之间的关联。我们对SCD患者的C677T多态性进行了研究，发现SCD患者与年龄匹配的对照组之间C677T基因型的分布存在显著差异。此外，与对照组相比，SCD患者中T等位基因频率显著增加。此外，与CC基因型的受试者相比，TT基因型受试者的血浆同型半胱氨酸浓度显著升高。逻辑回归分析结果显示，C677T基因型（TT与CT和CC相比）和维生素B12缺乏是SCD的危险因素。我们的研究结果表明，C677T的T等位基因赋予SCD强大的遗传易感性，并提供了C677T多态性与SCD之间关联的证据。这些数据揭示了SCD潜在的机制。
