"A genome-wide association study of age at loss of ambulation in Duchenne muscular dystrophy"

Duchenne muscular Dystrophy is a severe neuromuscular disorder affecting children. A major obstacle to the development of effective therapies has been its phenotypic variability, which is partly due to the patients' genetic background. Variants in five loci (i.e. genetic modifiers) have been associated with variability in DMD severity: SPP1, LTBP4, CD40, ACTN3, and THBS1. The purpose of this study is to perform a genome-wide association study (GWAS) to search for novel DMD modifier loci, using age at Loss of Ambulation as a primary indicator of disease severity, and genotyping a large cohort of DMD patients followed at specialized Centres in Italy. We identify association signals in chromosomes 1. Neighbouring genes represent putative modifiers to be subjected to functional studies.