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.

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

Calvo, Andrea
First
;
Moglia, Cristina;Canosa, Antonio;Cammarosano, Stefania;Ilardi, Antonio;Bertuzzo, Davide;Brunetti, Maura;Barberis, Marco;Casale, Federico;Chiò, Adriano
2018

Abstract

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.
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http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1097-4598
amyotrophic lateral sclerosis; CX3CR1 gene; microglia; neurodegeneration; survival; Physiology; Neurology (clinical); Cellular and Molecular Neuroscience; Physiology (medical)
Calvo, Andrea; Moglia, Cristina; Canosa, Antonio; Cammarosano, Stefania; Ilardi, Antonio; Bertuzzo, Davide; Traynor, Bryan J.; Brunetti, Maura; Barberis, Marco; Mora, Gabriele; Casale, Federico; Chiò, Adriano
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/1663044
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