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Abstract
Objective: To 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).
Methods: This 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.
Results: Eighty 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.
Conclusions: These 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.
GLOSSARY
- 6MWT=
- 6-Minute Walk Test;
- ANCOVA=
- analysis of covariance;
- DMD=
- Duchenne muscular dystrophy;
- NSAA=
- North Star Ambulatory Assessment
Footnotes
Study funding: Supported by grants from NIH 1U54HD053177 (Wellstone Muscular Dystrophy Center), Italian Telethon UILDM grant (GUP07009), the Eurobiobank network (QLRT2001-027769 to C.A.), Telethon Bank (GTF05003), and NHGMBB (Second University of Napoli), member of Eurobiobank and Telethon Network of Genetic Biobanks.
- Received October 14, 2011.
- Accepted February 29, 2012.
- Copyright © 2012 by AAN Enterprises, Inc.
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