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Protein C Promotor Haplotypes Associated with Large-Artery Atherosclerosis Stroke in Iranian Population

Seyed Elyas Meshkani1, Ali Fasihi2, Fatemeh Badakhshan3

  • 1Cellular and Molecular Research Center, Sabzevar University of Medical Sciences, Sabzevar, Iran.

Journal of Molecular Neuroscience : MN
|March 6, 2021
PubMed

Insights

Genetic variations in Protein C (PC) influence ischemic stroke (IS) risk. Specific single-nucleotide polymorphisms (SNPs) in the PC promoter were found to be more common in Iranian IS patients, suggesting a genetic link.

Area of Science:

  • Genetics
  • Cardiovascular Science
  • Molecular Biology

Background:

  • Ischemic stroke (IS) is a complex condition with numerous risk factors, including genetic predispositions.
  • Protein C (PC), an essential antithrombotic enzyme, plays a crucial role in regulating blood coagulation.
  • Genetic variations in PC can disrupt coagulation pathways, potentially leading to thrombosis and increasing stroke risk.

Purpose of the Study:

  • To investigate the association between three single-nucleotide polymorphisms (SNPs) in the core promoter of the Protein C gene and the risk of ischemic stroke in the Iranian population.
  • To explore the potential functional impact of these SNPs on PC gene expression and their role in IS pathogenesis.

Main Methods:

  • Blood samples were collected from ischemic stroke patients (n=249) and healthy controls (n=203).
  • Biochemical analyses were performed, and DNA was extracted for genotyping using the High-Resolution Melting (HRM) technique.
  • Bioinformatic analyses were employed to predict the functional consequences of identified SNPs on transcription factor binding and gene expression.

Main Results:

  • Significant differences in smoking status, hypertension, LDL cholesterol, and fasting blood glucose were observed between IS patients and controls.
  • Two SNPs, rs1799809 and rs1799810, were found to be significantly more prevalent in the IS patient group.
  • The CGT haplotype was significantly associated with an increased risk of ischemic stroke (p=0.001).

Conclusions:

  • Specific SNPs in the Protein C core promoter are associated with an increased risk of ischemic stroke in the Iranian population.
  • These genetic variations may alter transcription factor binding affinity, leading to reduced PC expression and consequently elevating the risk of IS.
  • The findings highlight the importance of genetic factors, particularly variations in the PC gene, in the etiology of ischemic stroke.

Keywords:
HaplotypeIschemic stroke (IS)Large-Artery Atherosclerosis StrokeProtein CRs1799808Rs1799809Rs1799810

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