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Association of XPF Levels and Genetic Polymorphism with Susceptibility to Ischemic Stroke

Ying Ma1, Xiao-Dong Deng2, Yu Feng3

  • 1Department of Neurology, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, 637000, People's Republic of China.

Journal of Molecular Neuroscience : MN
|February 19, 2016
PubMed

Insights

The xeroderma pigmentosum group F (XPF) gene is linked to ischemic stroke risk. Lower XPF levels and a specific XPF gene variant (30028T/C) are associated with increased susceptibility in the Chinese Han population.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • The xeroderma pigmentosum group F (XPF) gene is implicated in DNA repair pathways.
  • XPF gene involvement in ischemic stroke pathophysiology is suggested.
  • Genetic variations in XPF may influence ischemic stroke risk.

Purpose of the Study:

  • To evaluate XPF messenger RNA (mRNA) and protein levels in ischemic stroke patients.
  • To investigate the association of the XPF 30028T/C polymorphism (rs1799801) with ischemic stroke susceptibility.
  • To explore the relationship between XPF genotype and protein levels.

Main Methods:

  • Quantification of XPF mRNA in peripheral blood mononuclear cells.
  • Measurement of XPF protein levels in plasma.
  • Genotyping analysis of the XPF 30028T/C polymorphism in ischemic stroke patients and controls.
  • Statistical analysis including odds ratios and confidence intervals, adjusted for covariates.

Main Results:

  • XPF mRNA and plasma protein levels were significantly lower in ischemic stroke patients compared to controls.
  • The C allele of the 30028T/C polymorphism was associated with a significantly increased risk of ischemic stroke.
  • The CT and CC/CT genotypes showed a higher frequency in patients, indicating increased risk.
  • XPF plasma protein levels were reduced in individuals with the CC/CT genotype compared to the TT genotype.

Conclusions:

  • XPF plays a significant role in the pathophysiology of ischemic stroke.
  • The XPF 30028T/C polymorphism is a potential genetic marker for ischemic stroke susceptibility.
  • Findings are specific to the Chinese Han population studied.
Keywords:
Genetic susceptibilityIschemic strokeSingle-nucleotide polymorphismsXeroderma pigmentosum group F (XPF)

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