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Common polymorphisms of chemokine (C‐X3‐C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population‐based study
Author(s) -
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
Publication year - 2018
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.25653
Subject(s) - amyotrophic lateral sclerosis , cx3cr1 , genotype , chemokine , neuroinflammation , biology , microglia , phenotype , chemokine receptor , cxcl14 , medicine , receptor , gene , oncology , immunology , genetics , inflammation , disease
: 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