中国神经再生研究(英文版)

中国神经再生研究(英文版) ›› 2017, Vol. 12 ›› Issue (8): 1315-1321.doi: 10.4103/1673-5374.213552

• 原著:脑损伤修复保护与再生 • 上一篇    下一篇

前蛋白转化酶枯草溶菌素9基因多态性与新疆维维吾尔族和汉族人群腔隙性脑梗死易感性的关联与差异

  

  • 收稿日期:2017-05-13 出版日期:2017-08-15 发布日期:2017-08-15
  • 基金资助:

    国家自然科学基金（81160145）

Association and differences in genetic polymorphisms in PCSK9 gene in subjects with lacunar infarction in the Han and Uygur populations of Xinjiang Uygur Autonomous Region of China

Deng-feng Han1, Jian-hua Ma1, Chen-guang Hao1, Tuerhong·Tuerxun1, Lei Du1, Xiao-ning Zhang2   

  1. 1 Department of Neurology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang Uygur Autonomous Region, China;
    2 Department of Neurology, Fourth Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang Uygur Autonomous Region, China
  • Received:2017-05-13 Online:2017-08-15 Published:2017-08-15
  • Contact: Xiao-ning Zhang, M.D.,32193860@qq.com.
  • Supported by:

    This work was supported by the National Natural Science Foundation of China, No. 81160145.

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摘要：

前蛋白转化酶枯草溶菌素9可发生基因突变237例前蛋白转化酶枯草溶菌素9基因多态性的关联。通过单碱基延伸SNP分型技术(SNaPshot)，对前蛋白转化酶枯草溶菌素9基因的4个基因位点进行多态性分析，对汉族患者的变异纯合子的比较发现，前蛋白转化酶枯草溶菌素9的rs17111503 G>A多态性在显性遗传模型及隐性遗传模型均与腔隙梗死的易感性增加有明显相关性，但在维吾尔族患者却不存在此现象。在前蛋白转化酶枯草溶菌素9基因rs17111503 AA基因型患者中发现，相比维吾尔族患者，汉族患者的三酰甘油水平较低。关联分析结果显示，汉族和维吾尔族腔隙性脑梗死患者前蛋白转化酶枯草溶菌素9 rs17111503 G>A基因多态性与吸烟、饮酒、高血压及糖尿病病史因素无关，rs11583680，rs483462，rs505151与腔隙性脑梗死的风险无关。结果证实，前蛋白转化酶枯草溶菌素9 rs17111503 G>A多态性可能与汉族人群腔隙梗死的易感性增加有关，但并不影响维吾尔族人群腔隙性脑梗死的易感性。 ，最终导致严重高胆固醇血症和脑梗死等血管事件。我们观察了新疆维吾尔族和汉族人群腔隙性脑梗死患者

orcid:0000-0002-6763-7634(Xiao-ning Zhang)

关键词: 神经再生, 基因, 前蛋白转化酶枯草溶菌素9, 腔隙性脑梗死, 多态性, 病例对照, 维吾尔族人群, 汉族人群, 核磁共振成像, 相关性, 敏感性

Abstract:

Polymorphisms in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene are associated with severe hypercholesterolemia and stroke. Here, we investigated the relationship between single nucleotide polymorphisms in PCSK9 and stroke in 237 patients with lacunar infarction in the Uygur and Han populations in Xinjiang Uygur Autonomous Region of China. Using the SNaPshot single-base terminal extension method, four PCSK9 gene polymorphisms were analyzed. We found a significantly strong relationship between the PCSK9 rs17111503 (G > A) polymorphism and increased susceptibility to lacunar infarction by variant homozygote comparison, and using the dominant and recessive models in the Han population but not in the Uygur population. Low triglyceride levels were found in AA carriers (rs17111503, G > A) in the Han population but not in the Uygur population. Association analysis revealed that the rs17111503 (G > A) olymorphism was not significantly associated with smoking, alcohol drinking, history of hypertension or diabetes in the Han or Uygur lacunar infarction patients. rs11583680, rs483462 and rs505151 were not associated with risk of lacunar infarction in the Han or Uygur populations. Our findings suggest that the PCSK9 rs17111503 (G > A) polymorphism is associated with susceptibility to lacunar infarction in the Han population but not in the Uygur population.

Key words: nerve regeneration, genetic, proprotein convertase subtilisin/kexin type 9, lacunar infarction, polymorphisms, case control, Uygur populations, Han populations, magnetic resonance imaging, association, susceptibility, neural regeneration