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Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A

Andrea Calvo1,2, Cristina Moglia1,2, Antonio Canosa1

  • 1"Rita Levi Montalcini" Department of Neuroscience, Neurology II, ALS Center, University of Torino, Via Cherasco 15, I-10126, Torino, Italy.

Muscle & Nerve
|March 26, 2017
PubMed
Abstract

Insights

Common variants in the chemokine (C-X3-C motif) receptor 1 (CX3CR1) gene impact amyotrophic lateral sclerosis (ALS) survival. Specific CX3CR1 genotypes were linked to altered survival times in ALS patients.

Area of Science:

  • Neuroscience
  • Genetics
  • Immunology

Background:

  • The chemokine (C-X3-C motif) receptor 1 (CX3CR1) gene is crucial for neuron-microglia communication in the brain.
  • Microglia express CX3CR1, mediating vital interactions with neurons.

Purpose of the Study:

  • To investigate if common polymorphisms in the CX3CR1 gene (V249I and T280M) influence the phenotype of amyotrophic lateral sclerosis (ALS).

Main Methods:

  • A cohort of 755 ALS patients and 369 controls were genotyped.
  • Statistical analysis, including Cox multivariable analysis, was performed to assess genotype-phenotype correlations.

Main Results:

  • No association was found between CX3CR1 variants and ALS risk.
  • The V249I V/V genotype was associated with a 6-month shorter survival in ALS patients.
  • The T280M genotype showed a significant difference in survival across genotypes.

Conclusions:

  • Common variants of the CX3CR1 gene significantly influence ALS survival.
  • These findings support the role of neuroinflammation in the pathogenesis of ALS.
Keywords:
CX3CR1 geneamyotrophic lateral sclerosismicroglianeurodegenerationsurvival

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