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Muscle Nerve. 2018 Feb;57(2):212-216. doi: 10.1002/mus.25653. Epub 2017 Apr 25.

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

Author information

1
"Rita Levi Montalcini" Department of Neuroscience, Neurology II, ALS Center, University of Torino, Via Cherasco 15, I-10126, Torino, Italy.
2
Azienda Ospedaliero-Universitaria Città della Salute e della Scienza, Torino, Italy.
3
Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, Maryland, USA.
4
Salvatore Maugeri Foundation, IRCSS, Scientific Institute of Milano, Milano, Italy.
5
Institute of Cognitive Sciences and Technologies, National Council of Researches, Rome, Italy.

Abstract

INTRODUCTION:

In the brain, the chemokine (C-X3-C motif) receptor 1 (1CX3CR1) gene is expressed only by microglia, where it acts as a key mediator of the neuron-microglia interactions. We assessed whether the 2 common polymorphisms of the CX3CR1 gene (V249I and T280M) modify amyotrophic lateral sclerosis (ALS) phenotype.

METHODS:

The study included 755 ALS patients diagnosed in Piemonte between 2007 and 2012 and 369 age-matched and sex-matched controls, all genotyped with the same chips.

RESULTS:

Neither of the variants was associated with an increased risk of ALS. Patients with the V249I V/V genotype had a 6-month-shorter survival than those with I/I or V/I genotypes (dominant model, P = 0.018). The T280M genotype showed a significant difference among the 3 genotypes (additive model, P = 0.036). Cox multivariable analysis confirmed these findings.

DISCUSSION:

We found that common variants of the CX3CR1 gene influence ALS survival. Our data provide further evidence for the role of neuroinflammation in ALS. Muscle Nerve 57: 212-216, 2018.

KEYWORDS:

CX3CR1 gene; amyotrophic lateral sclerosis; microglia; neurodegeneration; survival

PMID:
28342179
PMCID:
PMC5912184
[Available on 2019-02-01]
DOI:
10.1002/mus.25653

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