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Adverse associations between CX3CR1 polymorphisms and risk of cardiovascular or cerebrovascular disease

Elise Lavergne1, Julien Labreuche, Mehdi Daoudi

  • 1Laboratoire d'Immunologie Cellulaire, INSERM U543, Hôpital Pitié-Salpêtrière, Paris, France.

Arteriosclerosis, Thrombosis, and Vascular Biology
|February 1, 2005
PubMed

Insights

Rare CX3CR1 gene variants increase the risk of brain infarction (BI) by enhancing monocyte adhesion. These variants are linked to a lower incidence of cardiovascular history, suggesting a complex role in cerebrovascular diseases.

Area of Science:

  • Neuroscience
  • Genetics
  • Immunology

Background:

  • Cerebrovascular diseases, such as brain infarction (BI), are a leading cause of disability and death.
  • Monocyte recruitment plays a critical role in the pathogenesis of inflammatory and vascular diseases.
  • The CX3CR1 receptor and its ligand CX3CL1 are involved in monocyte trafficking and inflammation.

Purpose of the Study:

  • To investigate the association between monocyte-recruiting chemokine receptor CX3CR1 gene polymorphisms and the risk of brain infarction (BI).
  • To explore the relationship between CX3CR1 genotypes, cardiovascular history, and monocyte adhesion.

Main Methods:

  • Case-control study (GENIC) involving subjects with and without brain infarction.
  • Genotyping of CX3CR1 alleles, including I249 and M280 variants.
  • Ex vivo assessment of monocyte adhesion to CX3CL1 in relation to CX3CR1 genotype.

Main Results:

  • Homozygosity for rare CX3CR1 alleles (I249, M280) was significantly more frequent in BI cases than controls, indicating an increased risk of BI (OR=1.66-2.62).
  • This association was independent of established risk factors and disease severity.
  • Individuals with rare CX3CR1 alleles showed increased monocyte adhesion to CX3CL1.
  • A protective association between the CX3CR1-I249 allele and cardiovascular history was confirmed, with BI risk enhanced in those without prior cardiovascular events.

Conclusions:

  • Rare CX3CR1 alleles are associated with an elevated risk of brain infarction.
  • These genetic variants are linked to a reduced frequency of cardiovascular history.
  • Increased monocyte adhesion, driven by rare CX3CR1 alleles, may contribute to stroke mechanisms.
Abstract

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