The Association Between the Genetic Variants of the NOTCH3 Gene and Ischemic Stroke Risk

Abstract

BackgroundIschemic stroke (IS) is a leading cause of disability and death and NOTCH3 as a gene related with cardiac-cerebral vascular disease plays a vital role in IS development. However, the reports about the effect of genetic variants in NOTCH3 gene on IS are still few.Material/MethodsIn order to explore the association between NOTCH3 polymorphisms and IS, 134 patients with IS and 115 controls were enrolled in this case-control study. Polymerase chain reaction was used to do the genotyping of polymorphisms. The χ2 test was performed to evaluate Hardy-Weinberg equilibrium (HWE) in the control group and calculate odds ratio (OR) with corresponding 95% confidence interval (CI) which represented the association intensity of NOTCH3 gene polymorphisms and IS risk.ResultsThe genotype frequencies in the control group all confirmed to HWE. TT genotype of 381C>T was associated significantly with IS risk (OR=2.441, 95%CI=1.021–5.837). TC, CC mutant genotypes of 1735T>C had higher frequencies in cases than controls and the difference was significant (P=0.013, 0.041); further, its C allele also increased 0.722 times risk in the case group than controls (OR=1.722, 95%CI=1.166–2.541).ConclusionsNOTCH3 381C>T and 1735T>C polymorphisms were associated with IS and might be the risk factors for IS development, but not NOTCH3 605C>T polymorphism.

Multimodal imaging analyses in patients with genetic and sporadic forms of small vessel disease

“…In contrast, a study based on an Austrian population without stroke showed that NOTCH3 variants were associated with the presence and progression of WMH 35 . Another study showed that only some of the NOTCH3 variants were associated with ischemic stroke in Chinese patients 36 . Therefore, most NOTCH3 variants do not seem to be associated with ischemic lesions, although there is a difference depending on race or type of polymorphism.…”

Association of NOTCH3 Gene Polymorphisms with Ischemic Stroke and Its Subtypes: A Meta-Analysis

“…Forty percent of the studies were matched for age and gender [12,14,20,21], while 10% of the studies were matched for age and demographic area [22]. Among the included studies, the control group reported by Yuan et al [12] consisted of both population- and hospital-based controls; 80% of the cases were assessed by neuroimaging techniques except for Zhu et al [23], by a stroke specialist. In addition, 30% of the included studies deviated from HWE ( p < 0.05) [13,22,24].…”

“…There are 170 missense mutations known to cause CADASIL, in which 95% of them are identified in the NOTCH3 gene [11]. Among these mutations, NOTCH3 rs1043994, rs1044009 and rs3815188 have been associated with ischemic stroke in Chinese populations [12], but not Japanese [13,14] and Caucasian [15] populations. Indeed, the exact cause of the association of these polymorphisms with ischemic stroke risk and its subtypes remains unclear.…”

MMP‐9 gene rs3918242 polymorphism increases risk of stroke: A meta‐analysis

“…The risk of stroke can be intensified by high blood cholesterol, tobacco addiction, obesity, high blood pressure, and diabetes mellitus. [3][4][5][6] Therefore, it is urgent to investigate the genetic variants that trigger stroke. 2 It is implied that stroke might be very likely induced by some genetic factors.…”

“…2 It is implied that stroke might be very likely induced by some genetic factors. [3][4][5][6] Therefore, it is urgent to investigate the genetic variants that trigger stroke.…”