Zhu Chun-Yu, Wang Yue, Zeng Qing-Xuan, Qian Yu, Li Huan, Yang Zi-Xia, Yang Ya-Mei, Zhang Qiong, Li Fei-Feng, Liu Shu-Lin
Systemomics Center, College of Pharmacy, and Genomics Research Center (State-Province Key Laboratories of Biomedicine-Pharmaceutics of China), Harbin Medical University, Harbin, China.
Department of Neurology, Daqing Oilfield General Hospital, Daqing, China.
Metab Brain Dis. 2016 Oct;31(5):1157-64. doi: 10.1007/s11011-016-9868-0. Epub 2016 Jul 2.
Cerebral infarction disease is a severe hypoxic ischemic tissue necrosis in the brain, often leading to long-term functional disability and residual impairments. The Notch signaling pathway plays key roles in proliferation and survival of the stem/progenitor cells of the central and peripheral nervous systems. Notch3 is an important member of the pathway, but the relationships between the genetic abnormalities and cerebral infarction disease still remain unclear. The aim of this work was to evaluate variations in Notch3 gene for their possible associations with the cerebral infarction disease. We sequenced the Notch3 gene for 260 patients with cerebral infarction disease, 300 normal controls with old ages and 300 normal controls with younger ages, and identified the variations. The statistical analyses were conducted using Chi-Square Tests as implemented in SPSS (version 19.0). The Hardy-Weinberg equilibrium test of the population was carried out using the online software OEGE. Six variations, including rs1044116, rs1044009, rs1044006, rs10408676, rs1043996 and rs16980398 within or near the Notch3 gene, were found. The genetic heterozygosity of rs1044116, rs1044009, rs1044006, and rs1043996 was very high, whereas that of rs10408676 and rs16980398 was very low. Statistical analyses showed that rs1044009 and rs1044006 were associated with the risk of cerebral infarction disease in the Chinese Han agedness population. The SNPs rs1044009 and rs1044006 in the Notch3 gene were associated with the risk of cerebral infarction diseases in the Chinese Han agedness population.
脑梗死疾病是大脑中严重的缺氧缺血性组织坏死，常导致长期功能残疾和残留损伤。Notch信号通路在中枢和外周神经系统的干细胞/祖细胞的增殖和存活中起关键作用。Notch3是该通路的重要成员，但基因异常与脑梗死疾病之间的关系仍不清楚。这项工作的目的是评估Notch3基因的变异及其与脑梗死疾病的可能关联。我们对260例脑梗死疾病患者、300例老年正常对照和300例年轻正常对照的Notch3基因进行了测序，并鉴定了变异。使用SPSS（版本19.0）中实施的卡方检验进行统计分析。使用在线软件OEGE对人群进行Hardy-Weinberg平衡检验。在Notch3基因内部或附近发现了6个变异，包括rs1044116、rs1044009、rs1044006、rs10408676、rs1043996和rs16980398。rs1044116、rs1044009、rs1044006和rs1043996的基因杂合度非常高，而rs10408676和rs16980398的基因杂合度非常低。统计分析表明，rs1044009和rs1044006与中国汉族老年人群脑梗死疾病风险相关。Notch3基因中的单核苷酸多态性rs1044009和rs1044006与中国汉族老年人群脑梗死疾病风险相关。
