Sección de Estudios de Posgrado e Investigación, Escuela Superior de Medicina, Instituto Politécnico Nacional, Ciudad de México, Mexico.
Servicio de Urgencias, H.G.R. No 1. Dr. Carlos Mac Gregor Sánchez Navarro, Instituto Mexicano del Seguro Social, Ciudad de México, Mexico.
Neurologia (Engl Ed). 2021 Jun;36(5):337-345. doi: 10.1016/j.nrleng.2018.01.011. Epub 2019 Nov 10.
Numerous polymorphisms in candidate genes coding for haemostatic system proteins have been proposed as risk factors for thrombosis.
We performed a case-control study of consecutive ischaemic stroke survivors aged ≤45 years, treated at our neurology department from 2006 to 2014. Polymerase chain reaction-restriction fragment length polymorphism identified the following polymorphisms: Thr325Ile and Ala147Thr in TAFI, 4G/5G in PAI-1, PLA1/A2 in platelet glycoprotein IIb/IIIa, Glu298Asp in eNOS, and C677T in 5,10-MTHFR. A multivariate logistic regression analysis was performed to evaluate the independent risk of stroke.
204 cases and 204 age- and sex-matched controls were included in the study. Clinical and genetic variables associated with ischaemic stroke were hypertension (P=.03), tobacco use (P=.02), and the polymorphisms Glu298Asp (genotype: P=.001, allele frequency: P=.001) and C677T (genotype: P=.01); the Ala147Thr, Thr325IIe, 4G/5G, and PLA1/A2 mutations were not associated with ischaemic stroke. The 298Asp (P=.03) and T (P=.01) alleles, hypertension (P=.03), tobacco use (P=.01) and family history of stroke (P=.04) were identified as independent risk factors.
The polymorphisms Glu298Asp and C677T, affecting the eNOS and 5,10-MTHFR enzymes, respectively, and smoking, hypertension, and family history of stroke were associated with ischaemic stroke in young Mexican patients; this was not the case for the Thr325Ile, Ala147Thr, 4G/5G, and PLA1/A2 polymorphisms of the genes coding for fibrinolytic proteins and platelet receptors.
许多候选基因编码的止血系统蛋白的多态性被认为是血栓形成的危险因素。
我们对 2006 年至 2014 年在我院神经内科治疗的年龄≤45 岁的连续缺血性脑卒中幸存者进行了病例对照研究。聚合酶链反应-限制性片段长度多态性鉴定了以下多态性：TAFI 的 Thr325Ile 和 Ala147Thr、PAI-1 的 4G/5G、血小板糖蛋白 IIb/IIIa 的 PLA1/A2、eNOS 的 Glu298Asp 和 5,10-MTHFR 的 C677T。进行多变量逻辑回归分析以评估中风的独立风险。
本研究纳入 204 例病例和 204 例年龄和性别匹配的对照。与缺血性脑卒中相关的临床和遗传变量包括高血压（P=.03）、吸烟（P=.02）以及 Glu298Asp（基因型：P=.001，等位基因频率：P=.001）和 C677T（基因型：P=.01）多态性；Ala147Thr、Thr325IIe、4G/5G 和 PLA1/A2 突变与缺血性脑卒中无关。298Asp（P=.03）和 T（P=.01）等位基因、高血压（P=.03）、吸烟（P=.01）和中风家族史（P=.04）被确定为独立危险因素。
影响 eNOS 和 5,10-MTHFR 酶的 Glu298Asp 和 C677T 多态性以及吸烟、高血压和中风家族史与年轻墨西哥患者的缺血性脑卒中相关；编码纤维蛋白溶解蛋白和血小板受体的基因的 Thr325Ile、Ala147Thr、4G/5G 和 PLA1/A2 多态性则不是。
