"Rita Levi Montalcini" Department of Neuroscience, Neurology II, ALS Center, University of Torino, Via Cherasco 15, I-10126, Torino, Italy.
Azienda Ospedaliero-Universitaria Città della Salute e della Scienza, Torino, Italy.
Muscle Nerve. 2018 Feb;57(2):212-216. doi: 10.1002/mus.25653. Epub 2017 Apr 25.
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.
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.
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.
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.
在大脑中，趋化因子（C-X3-C 基序）受体 1（1CX3CR1）基因仅由小胶质细胞表达，在神经元-小胶质细胞相互作用中起关键介导作用。我们评估了 CX3CR1 基因的 2 个常见多态性（V249I 和 T280M）是否改变肌萎缩侧索硬化症（ALS）表型。
本研究纳入了 2007 年至 2012 年间在皮埃蒙特诊断的 755 名 ALS 患者和 369 名年龄和性别匹配的对照者，所有患者均采用相同的芯片进行基因分型。
这两种变异均未增加 ALS 的发病风险。与 I/I 或 V/I 基因型相比，V249I V/V 基因型的患者生存时间缩短了 6 个月（显性模型，P = 0.018）。T280M 基因型在 3 种基因型之间存在显著差异（加性模型，P = 0.036）。Cox 多变量分析证实了这些发现。
我们发现 CX3CR1 基因的常见变异影响 ALS 的生存。我们的数据为神经炎症在 ALS 中的作用提供了进一步的证据。肌肉神经 57:212-216,2018。
