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Obesity and Environmental Risk Factors Significantly Modify the Association between Ischemic Stroke and the Hero

Irina Shilenok1,2, Ksenia Kobzeva1, Alexey Deykin3,4

  • 1Laboratory of Genomic Research, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 305041 Kursk, Russia.

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Summary

Single nucleotide polymorphisms (SNPs) in the C19orf53 gene are associated with an increased risk of ischemic stroke (IS). This genetic link is particularly evident in individuals with obesity, low fruit/vegetable intake, or low physical activity.

Keywords:
C19orf53SNPchaperoneschromosome 19 open reading frame 53heat-resistant obscureheroischemic strokelow fruit and vegetable intakelow physical activityobesity

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • C19orf53, identified as a "hero" protein in 2020, exhibits unique chaperone-like properties.
  • Ischemic stroke (IS) is a significant health concern with complex etiological factors.
  • Understanding the genetic underpinnings of IS is crucial for risk assessment and prevention.

Purpose of the Study:

  • To investigate the association between single nucleotide polymorphisms (SNPs) in the C19orf53 gene and the risk of ischemic stroke (IS).
  • To explore potential correlations between C19orf53 SNPs and specific risk factors for IS, including obesity, diet, and physical activity.

Main Methods:

  • Genotyping of 7 C19orf53 SNPs in 2138 Russian subjects (947 IS patients, 1308 controls) using probe-based PCR.
  • Application of dominant, recessive, and log-additive regression models to analyze SNP associations.
  • Statistical analysis to determine the significance of associations, including Bonferroni correction (Pbonf).

Main Results:

  • Significant associations were found between specific C19orf53 SNPs (rs10104, rs11666524, rs346158, rs2277947) and increased IS risk in patients with obesity.
  • Associations were also observed with rs11666524, rs346157, rs346158, and rs2277947 in individuals with low fruit and vegetable intake.
  • SNPs rs10104 and rs11666524 showed associations with IS risk in individuals with low physical activity.

Conclusions:

  • The study provides genetic and bioinformatic evidence supporting the involvement of C19orf53 in ischemic stroke risk.
  • Specific C19orf53 SNPs may act as genetic markers for individuals at higher risk of IS, particularly those with certain lifestyle factors.
  • Further research is warranted to elucidate the functional mechanisms linking C19orf53 to IS pathogenesis.