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Related Experiment Video

Updated: Aug 10, 2025

Culture of Macrophage Colony-stimulating Factor Differentiated Human Monocyte-derived Macrophages
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Circulating macrophage colony-stimulating factor levels and stroke: A Mendelian randomization study.

Liping Cao1, Dandan Liu2, Ville Karhunen3

  • 1Department of Neurology, The Third Affiliated Hospital of Soochow University, Changzhou, China.

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|February 13, 2023
PubMed
Summary

Higher colony-stimulating factor 1 (CSF1) levels, as predicted by genetics, are linked to increased risk of ischemic stroke, specifically large artery and cardioembolic subtypes. This suggests CSF1 may be a target for stroke prevention strategies.

Keywords:
AtherosclerosisColony-stimulating factor 1Mendelian randomizationStroke

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Area of Science:

  • Cardiovascular Epidemiology
  • Genetics
  • Neuroscience

Background:

  • Colony-stimulating factor 1 (CSF1), or macrophage colony-stimulating factor, is implicated in ischemic stroke risk.
  • Previous epidemiological studies suggest an association between CSF1 and stroke.
  • Mendelian randomization offers a method to investigate causal relationships using genetic variants.

Purpose of the Study:

  • To evaluate the effect of genetically predicted circulating CSF1 levels on ischemic stroke risk.
  • To assess the association between genetically predicted CSF1 levels and carotid intima-media thickness (cIMT).

Main Methods:

  • Utilized cis-acting genetic variants robustly associated with CSF1 levels as instrumental variables.
  • Employed large-scale genetic association data from MEGASTROKE, ISGC, and UK Biobank for stroke and cIMT.
  • Performed Mendelian randomization analysis to infer causality.

Main Results:

  • Genetically predicted higher CSF1 levels were significantly associated with increased risk of any ischemic stroke (OR 1.11, 95% CI 1.04-1.17).
  • Elevated CSF1 levels showed a significant association with large artery stroke (LAS) (OR 1.23, 95% CI 1.07-1.42) and cardioembolic stroke (CES) (OR 1.18, 95% CI 1.05-1.33).
  • Higher CSF1 levels were also associated with increased cIMT (β 0.016, 95% CI 0.004-0.029), indicating subclinical atherosclerosis.

Conclusions:

  • This Mendelian randomization study provides genetic evidence supporting a causal link between higher CSF1 levels and increased risk of ischemic stroke, particularly LAS and CES.
  • The findings suggest that CSF1 may play a role in the development of atherosclerosis and stroke.
  • Further research is warranted to explore CSF1-targeted therapies for ischemic stroke prevention.