Department of Neurology, Qilu Hospital of Shandong University and Brain Science Research Institute, Shandong University, 107 Wenhuaxi Road, Jinan, Shandong, 250012, People's Republic of China.
Department of Neurology, The First Affiliated Hospital of USTC, Anhui Provincial Hospital, Hefei, 230001, People's Republic of China.
BMC Neurol. 2019 Feb 23;19(1):31. doi: 10.1186/s12883-019-1259-9.
Ischemic stroke is a leading cause of mortality and morbidity worldwide. Stenosis or blockage of an artery from atherosclerosis can cause insufficient cerebral blood supply, which leads to ischemic stroke. It has been reported that the polymorphisms of TNFSF4 (tumor necrosis factor super family member 4) are associated with multiple autoimmune diseases. However, it is still unclear whether TNFSF4 gene polymorphisms are associated with ischemic stroke in the Han Chinese population. Here we analyzed the association between TNFSF4 single nucleotide polymorphisms (SNPs) and cerebral arterial thrombosis in the Han Chinese population.
We consecutively recruited 481 patients with cerebral arterial thrombosis and 538 healthy controls. Neck ultrasonography and magnetic resonance imaging (MRI) were used to evaluate large artery atherosclerosis (LAA) and small vessel disease (SVD), as well as the thickness and calcification of carotid artery. DNA was purified from the peripheral blood samples. TNFSF4 SNPs, rs1234313 and rs45454293, were genotyped using PCR.
rs1234313 SNP had a significant correlation with the LAA and SVD subtypes in allelic (G vs A), dominate (GG/GA vs AA) and genotypic (GA vs AA; GG vs AA) models, as well as with the calcification of carotid plaque in dominant (GG/GA vs AA, p = 0.022) and genotypic (GA vs AA, p = 0.01) models. rs45454293 SNP had a significant correlation with the LAA and SVD subtypes in allelic (G vs A) and genotypic models, as well as with the thick carotid plaque in allelic (G vs A, p = 0.01) model.
TNFSF4 SNPs, rs1234313 and rs45454293, are associated with the risk of specific subtypes of cerebral arterial thrombosis in the Han Chinese population.
缺血性脑卒中是全世界导致死亡和发病的主要原因。动脉粥样硬化导致的动脉狭窄或阻塞会引起脑血供不足，从而导致缺血性脑卒中。有报道称，肿瘤坏死因子超家族成员 4（TNFSF4）的多态性与多种自身免疫性疾病有关。然而，TNFSF4 基因多态性是否与汉族人群的缺血性脑卒中有关仍不清楚。在这里，我们分析了 TNFSF4 单核苷酸多态性（SNP）与汉族人群脑动脉血栓形成的关系。
我们连续招募了 481 例脑动脉血栓形成患者和 538 例健康对照者。颈部超声和磁共振成像（MRI）用于评估大动脉粥样硬化（LAA）和小血管疾病（SVD），以及颈动脉的厚度和钙化。从外周血样本中提取 DNA。采用 PCR 方法对 TNFSF4 基因的 rs1234313 和 rs45454293 进行基因分型。
rs1234313 单核苷酸多态性在等位基因（G 对 A）、显性（GG/GA 对 AA）和基因型（GA 对 AA；GG 对 AA）模型中与 LAA 和 SVD 亚型显著相关，与颈动脉斑块钙化在显性（GG/GA 对 AA，p=0.022）和基因型（GA 对 AA，p=0.01）模型中也显著相关。rs45454293 单核苷酸多态性在等位基因（G 对 A）和基因型模型中与 LAA 和 SVD 亚型显著相关，在等位基因模型中与厚颈动脉斑块显著相关（G 对 A，p=0.01）。
TNFSF4 基因的 rs1234313 和 rs45454293 多态性与汉族人群特定类型脑动脉血栓形成的风险相关。
