Sorosina Melissa, Esposito Federica, Guaschino Clara, Clarelli Ferdinando, Barizzone Nadia, Osiceanu Ana Maria, Brambilla Paola, Mascia Elisabetta, Cavalla Paola, Gallo Paolo, Martinelli Vittorio, Leone Maurizio, Comi Giancarlo, D'Alfonso Sandra, Martinelli Boneschi Filippo
Laboratory of Genetics of Neurological complex Disorders, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Laboratory of Genetics of Neurological complex Disorders, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy/Department of Neurology, Institute of Experimental Neurology (INSPE), Division of Neuroscience, San Raffaele Scientific Institute, Milan, Italy.
Mult Scler. 2015 Oct;21(11):1463-7. doi: 10.1177/1352458514561910. Epub 2014 Dec 22.
We correlated the weighted genetic risk score measured using 107 established susceptibility variants for multiple sclerosis (MS) with the age at onset in bout-onset (BOMS, n=906) and progressive-onset MS Italian patients (PrMS) (n=544). We observed an opposite relationship in the two disease courses: a higher weighted genetic risk score was associated with an earlier age at onset in BOMS (rho= -0.1; p=5 × 10(-3)) and a later age at onset in PrMS cases (rho=0.07; p=0.15) (p of difference of regression=1.4 × 10(-2)). These findings suggest that established MS risk variants anticipate the onset of the inflammatory phase, while they have no impact on, or even delay, the onset of the progressive phase.
我们将使用107个已确定的多发性硬化症（MS）易感性变体测量的加权遗传风险评分，与发作性起病型多发性硬化症（BOMS，n = 906）和进行性起病型多发性硬化症（PrMS）意大利患者（n = 544）的发病年龄进行了关联分析。我们在两种疾病病程中观察到了相反的关系：较高的加权遗传风险评分与BOMS中较早的发病年龄相关（rho = -0.1；p = 5×10⁻³），而与PrMS病例中较晚的发病年龄相关（rho = 0.07；p = 0.15）（回归差异的p值 = 1.4×10⁻²）。这些发现表明，已确定的MS风险变体预示着炎症期的发作，而它们对进展期的发作没有影响，甚至会延迟进展期的发作。
