Yuan Xiaoling, Dong Zifeng
Department of Neurology, People's Hospital of Liaocheng, Liaocheng, Shandong, China (mainland).
Department of Anesthesiology, People's Hospital of Liaocheng, Liaocheng, Shandong, China (mainland).
Med Sci Monit. 2016 Oct 22;22:3910-3914. doi: 10.12659/msm.896297.
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.
背景 缺血性脑卒中（IS）是导致残疾和死亡的主要原因，NOTCH3作为一种与心脑血管疾病相关的基因，在IS的发生发展中起着至关重要的作用。然而，关于NOTCH3基因变异对IS影响的报道仍然很少。材料与方法 为了探讨NOTCH3基因多态性与IS之间的关联，本病例对照研究纳入了134例IS患者和115例对照。采用聚合酶链反应进行多态性基因分型。进行χ²检验以评估对照组的哈迪-温伯格平衡（HWE），并计算比值比（OR）及相应的95%置信区间（CI），其代表NOTCH3基因多态性与IS风险的关联强度。结果 对照组的基因型频率均符合HWE。381C>T的TT基因型与IS风险显著相关（OR=2.441，95%CI=1.021-5.837）。1735T>C的TC、CC突变基因型在病例组中的频率高于对照组，差异具有统计学意义（P=0.013，0.041）；此外，其C等位基因在病例组中的风险比对照组增加了0.722倍（OR=1.722，95%CI=1.166-2.541）。结论 NOTCH3基因的381C>T和1735T>C多态性与IS相关，可能是IS发生发展的危险因素，但NOTCH3基因的605C>T多态性与IS无关。
