Annus Ádám, Juhász Lilla Ágnes, Szabó Elza, Rárosi Ferenc, Szpisjak László, Vécsei László, Klivényi Péter
University of Szeged, Albert Szent-Györgyi Health Centre, Department of Neurology, H-6725, Szeged, Semmelweis u. 6, Hungary.
Universtiy of Szeged, Department of Medical Physics and Informatics, H-6720, Szeged, Korányi fasor 9, Hungary.
Heliyon. 2020 Nov 2;6(11):e05305. doi: 10.1016/j.heliyon.2020.e05305. eCollection 2020 Nov.
There are conflicting results in the literature regarding the connection between thrombophilias and ischaemic stroke. However, most of the clinical studies have not differentiated between various ischaemic stroke subtypes. Our aim was to investigate whether there is an association between the methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism and ischaemic stroke due to small vessel disease (SVD) in patients ≤50 years of age.
We performed a retrospective search in the database used at our Health Centre. Our study population consisted of 100 ischaemic stroke patients. 65 patients had MTHFR C677T variants: 21 were homozygous (TT allele), 45 were heterozygous (CT). 35 stroke patients did not carry MTHFR C677T polymorphism (wild genotype, CC). Stroke subtypes were determined according to the TOAST classification. Pearson's chi-squared test of independence was used to evaluate differences between subgroups and multivariate logistic regression was also performed.
More than half of our study population (52.00%) had lacunar strokes. The ratio of SVD in patients ≤50 years of age with TT homozygous variant was significantly higher compared to heterozygous and wild type subjects (p = 0.032 and p = 0.03 respectively). Multivariate logistic regression also showed, that apart from hypertension, only TT homozygosity was a predictive factor for SVD related stroke (p = 0.014, OR 1.619, 95% CI 1.390-18.338).
Our results demonstrate that in a Hungarian population of ischaemic stroke patients ≤50 years of age, SVD is the most common stroke subtype. In addition, we found association of SVD stroke with hypertension and MTHFR 677TT homozygous polymorphism.
关于血栓形成倾向与缺血性中风之间的联系，文献中的结果相互矛盾。然而，大多数临床研究并未区分各种缺血性中风亚型。我们的目的是研究亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性与50岁及以下患者因小血管疾病（SVD）导致的缺血性中风之间是否存在关联。
我们在健康中心使用的数据库中进行了回顾性检索。我们的研究人群包括100例缺血性中风患者。65例患者有MTHFR C677T变异：21例为纯合子（TT等位基因），45例为杂合子（CT）。35例中风患者未携带MTHFR C677T基因多态性（野生基因型，CC）。根据TOAST分类确定中风亚型。使用Pearson卡方独立性检验评估亚组之间的差异，并进行多因素逻辑回归分析。
我们研究人群中超过一半（52.00%）患有腔隙性中风。与杂合子和野生型受试者相比，50岁及以下携带TT纯合变异的患者中SVD的比例显著更高（分别为p = 0.032和p = 0.03）。多因素逻辑回归分析还显示，除高血压外，只有TT纯合性是SVD相关中风的预测因素（p = 0.014，OR 1.619，95%CI 1.390 - 18.338）。
我们的结果表明，在匈牙利50岁及以下的缺血性中风患者人群中，SVD是最常见的中风亚型。此外，我们发现SVD中风与高血压和MTHFR 677TT纯合基因多态性有关。
