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 Han; Jian-Hua Ma; Chen-Guang Hao; Tuerhong Tuerxun; Lei Du; Xiao-Ning Zhang

doi:10.4103/1673-5374.213552

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

Neural Regen Res. 2017 Aug;12(8):1315-1321. doi: 10.4103/1673-5374.213552.

Authors

Deng-Feng Han¹, Jian-Hua Ma¹, Chen-Guang Hao¹, Tuerhong Tuerxun¹, Lei Du¹, Xiao-Ning Zhang²

Affiliations

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.

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) polymorphism 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.

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