JMIR Publications

ABSTRACT

Background:

The etiology of ischemic stroke is multifactorial. Several gene mutations have been identified as a leading cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This hereditary disease causes stroke and other neurological symptoms.

Objective:

The overall preclinical characteristics, cumulative cutpoint values, and the factors associated with these somatic mutations were analyzed in the uni/multidimensional scaling model.

Methods:

We conducted a hierarchical cluster analysis (HCA) study on 100 patients diagnosed with ischemic stroke, identifying the variants of NOTCH3 and the thrombophilia genes by PCT-CTPP and real-time PCR.

Results:

We found several critical optimal cutpoints are: 83.67±9.19umol/l(Creatinin), 54±5years old (age), 13.25±0.17 seconds (time of PT), 1.02±0.03 (INR), in which we end up with the significant cutpoint 50 of Glasgow Coma Scale (GCS), the Modified Rankin Score (mRS); the NIHSS at the admission, after 24h and at the discharge, are: 12.77; 2.86±1.21, 9.83±2.85, 7.29±2.04, 6.85±2.90, respectively by Nagelkerke method. The two variants of MTHFR (C677T, A1289C) and NOTCH 3 p.R544C may influence the stroke severity with specific conditions of Prothrombin, Creatinin, INR, and BMI, with the risk ratios of 4.8[1.53,15.04] and 3.13[1.6,6.11], respectively (pfisher<0.05).

Conclusions:

It is also interesting that although there are lots of genes linked to increased atrial fibrillation risk, not all of them are associated with the ischemic stroke risk. As stroke risk loci are being detected, more information is gained on their impact and their interconnections, especially in young patients.