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Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations

Dengfeng Han1, Jianhua Ma1, Xiaoning Zhang1

  • 1Department of Neurology, First Affiliated Hospital of Xinjiang Medical University, Urumqi, China (mainland).

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research
|October 1, 2014
PubMed

Insights

Specific PCSK9 gene variants are linked to cerebral ischemic stroke (CIS) risk in the Han Chinese population. The A-C haplotype of PCSK9 may serve as a genetic marker for CIS in this group.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Neurology

Background:

  • Cerebral ischemic stroke (CIS) is a leading cause of death and disability.
  • Atherosclerosis (AS) underlies CIS, with dyslipidemia as a primary risk factor.
  • Human proprotein convertase subtilisin/kexin9 (PCSK9) regulates low-density lipoprotein (LDL) cholesterol.

Purpose of the Study:

  • To investigate the association between PCSK9 gene polymorphisms and CIS.
  • To compare these associations in Chinese Han and Uygur populations.

Main Methods:

  • Genotyping of 20 single-nucleotide polymorphisms (SNPs) in the PCSK9 gene.
  • Utilized the single-base terminal extension (SNaPshot) method.
  • Analyzed 408 CIS patients and 348 controls.

Main Results:

  • SNP8 (rs529787) genotype distribution differed significantly between CIS cases and controls.
  • In the Han population, SNPs 1 (rs1711503), 2 (rs2479408), and 8 (rs529787) showed significant associations with CIS.
  • The A-C haplotype (rs1711503 and rs2479408) was significantly associated with CIS risk in the Han population.

Conclusions:

  • PCSK9 gene variants rs1711503 and rs2479408 are associated with CIS in the Han Chinese population.
  • The A-C haplotype of PCSK9 may indicate an increased genetic risk for CIS in this population.
Abstract

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