Abstract
BACKGROUND Ischemic 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 AND METHODS In 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. RESULTS The 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). CONCLUSIONS NOTCH3 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.