• Luca Bello, Luisa Piva, Andrea Barp, Antonella Taglia, Esther Picillo, Gessica Vasco, Marika Pane, Stefano C Previtali, Yvan Torrente, Elisabetta Gazzerro, Maria Chiara Motta, Gaetano S Grieco, Sara Napolitano, Francesca Magri, Adele D'Amico, Guja Astrea, Sonia Messina, Maria Sframeli, Gian Luca Vita, Patrizia Boffi, Tiziana Mongini, Alessandra Ferlini, Francesca Gualandi, Gianni Soraru', Mario Ermani, Giuseppe Vita, Roberta Battini, Enrico Bertini, Giacomo P Comi, Angela Berardinelli, Carlo Minetti, Claudio Bruno, Eugenio Mercuri, Luisa Politano, Corrado Angelini, Eric P Hoffman, and Elena Pegoraro.
• Neuromuscular Center, Department of Neurosciences, University of Padova, Padova.
• Neurology. 2012 Jul 10; 79 (2): 159-62.

ObjectiveTo test the effect of the single nucleotide polymorphism -66 T>G (rs28357094) in the osteopontin gene (SPP1) on functional measures over 12 months in Duchenne muscular dystrophy (DMD).MethodsThis study was conducted on a cohort of ambulatory patients with DMD from a network of Italian neuromuscular centers, evaluated longitudinally with the north star ambulatory assessment (NSAA) and the 6-minute walk test (6MWT) at study entry and after 12 months. Genotype at rs28357094 was determined after completion of the clinical evaluations. Patients were stratified in 2 groups according to a dominant model (TT homozygotes vs TG heterozygotes and GG homozygotes) and clinical data were retrospectively compared between groups.ResultsEighty patients were selected (age 4.1-19.3 years; mean 8.3 ± 2.7 SD). There were no differences in age or steroid treatment between the 2 subgroups. Paired t test showed a significant difference in both NSAA (p = 0.013) and 6MWT (p = 0.03) between baseline and follow-up after 12 months in patients with DMD carrying the G allele. The difference was not significant in the T subgroup. The analysis of covariance using age and baseline values as covariate and SPP1 genotype as fixed effect showed that these parameters are significantly correlated with the 12-month values.ConclusionsThese data provide evidence of the role of SPP1 genotype as a disease modifier in DMD and support its relevance in the selection of homogeneous groups of patients for future clinical trials.

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