背景:缺血性卒中的病因是多因素的。几种基因突变已被确定为伴有皮质下梗死和白质脑病(CADASIL)的常染色体显性遗传性脑动脉病的主要原因。引起中风和其他神经症状的遗传性疾病。
目的:我们旨在鉴定NOTCH3和血栓形成倾向基因的变体,以及它们与其他因素的复杂相互作用。
方法:我们对100例诊断为缺血性中风的患者的数据进行了层次聚类分析(HCA)。通过聚合酶链反应与面对的2对引物和实时聚合酶链反应鉴定NOTCH3和血栓形成倾向基因的变体。总体临床前特征,累积切割点值,并在一维和多维缩放模型中分析了与这些体细胞突变相关的因素。
结果:我们确定了以下最佳切点:肌酐,83.67(SD9.19)µmol/L;年龄,54(SD5)年;凝血酶原(PT)时间,13.25(SD0.17)秒;和国际标准化比率(INR),1.02(标准差0.03)。使用Nagelkerke方法,入院时格拉斯哥昏迷量表评分的50%值;改良的Rankin量表评分;和美国国立卫生研究院卒中量表评分,24小时后,出院时分别为12.77、2.86(SD1.21),9.83(标准差2.85),7.29(标准差2.04),和6.85(标准差2.90),分别。
结论:MTHFR(C677T和A1298C)和NOTCH3p.R544C的变体可能会在PT的特定条件下影响中风的严重程度,肌酐,INR,BMI,风险比为4.8(95%CI1.53-15.04)和3.13(95%CI1.60-6.11),分别(Pfisher<.05)。有趣的是,尽管有许多基因与房颤风险增加有关,并非所有这些都与缺血性卒中风险相关。随着中风风险位点的检测,可以获得更多关于它们的影响和相互联系的信息,尤其是年轻患者。
BACKGROUND: The etiology of ischemic stroke is multifactorial. Several gene mutations have been identified as leading causes of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary disease that causes stroke and other neurological symptoms.
OBJECTIVE: We aimed to identify the variants of NOTCH3 and thrombophilia genes, and their complex interactions with other factors.
METHODS: We conducted a hierarchical cluster analysis (HCA) on the data of 100 patients diagnosed with ischemic stroke. The variants of NOTCH3 and thrombophilia genes were identified by polymerase chain reaction with confronting 2-pair primers and real-time polymerase chain reaction. The overall preclinical characteristics, cumulative cutpoint values, and factors associated with these somatic mutations were analyzed in unidimensional and multidimensional scaling models.
RESULTS: We identified the following optimal cutpoints: creatinine, 83.67 (SD 9.19) µmol/L; age, 54 (SD 5) years; prothrombin (PT) time, 13.25 (SD 0.17) seconds; and international normalized ratio (INR), 1.02 (SD 0.03). Using the Nagelkerke method, cutpoint 50% values of the Glasgow Coma Scale score; modified Rankin scale score; and National Institutes of Health Stroke Scale scores at admission, after 24 hours, and at discharge were 12.77, 2.86 (SD 1.21), 9.83 (SD 2.85), 7.29 (SD 2.04), and 6.85 (SD 2.90), respectively.
CONCLUSIONS: The variants of MTHFR (C677T and A1298C) and NOTCH3 p.R544C may influence the stroke severity under specific conditions of PT, creatinine, INR, and BMI, with risk ratios of 4.8 (95% CI 1.53-15.04) and 3.13 (95% CI 1.60-6.11), respectively (Pfisher<.05). It is interesting that although there are many genes linked to increased atrial fibrillation risk, not all of them are associated with ischemic stroke risk. With the detection of stroke risk loci, more information can be gained on their impacts and interconnections, especially in young patients.