Galimberti Daniela, Fenoglio Chiara, Clerici Raffaella, Comi Cristoforo, De Riz Milena, Rottoli Mariarosa, Piccio Laura, Ronzoni Marco, Venturelli Eliana, Monaco Francesco, Poloni Marco, Bresolin Nereo, Scarpini Elio
Department of Neurological Sciences, "Dino Ferrari" Center, University of Milan, IRCCS Ospedale Maggiore Policlinico, Via F. Sforza, 35, 20122, Milan, Italy.
J Neuroimmunol. 2005 Aug;165(1-2):201-5. doi: 10.1016/j.jneuroim.2005.05.003.
Three hundred seven patients with MS and 300 controls were genotyped for G98T and A561C SNPs in the E-selectin gene, and genetic data were correlated with the course of the disease. The frequency of the T/T genotype of the G98T SNP was significantly increased in RR-MS patients compared with controls, while was absent in PP-MS. The frequency of the A561C SNP was significantly decreased in SP-MS compared with benign RR-MS. The T/T genotype of the G98T SNP is likely to confer an increased risk to develop MS. The A561C polymorphism seems to act as protective factor towards the progression to SP-MS.
对307例多发性硬化症（MS）患者和300例对照者进行E-选择素基因G98T和A561C单核苷酸多态性（SNP）基因分型，并将遗传数据与疾病进程相关联。与对照相比，复发缓解型多发性硬化症（RR-MS）患者中G98T SNP的T/T基因型频率显著增加，而原发进展型多发性硬化症（PP-MS）患者中不存在该基因型。与良性RR-MS相比，继发进展型多发性硬化症（SP-MS）中A561C SNP的频率显著降低。G98T SNP的T/T基因型可能会增加患MS的风险。A561C多态性似乎对进展为SP-MS起到保护作用。
