Neural Regeneration Research ›› 2017, Vol. 12 ›› Issue (8): 1315-1321.doi: 10.4103/1673-5374.213552

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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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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