SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy.

ABSTRACT:

Objective

Duchenne muscular dystrophy (DMD) is the most common single-gene lethal disorder. Substantial patient-patient variability in disease onset and progression and response to glucocorticoids is seen, suggesting genetic or environmental modifiers.

Methods

Two DMD cohorts were used as test and validation groups to define genetic modifiers: a Padova longitudinal cohort (n = 106) and the Cooperative International Neuromuscular Research Group (CINRG) cross-sectional natural history cohort (n = 156). Single nucleotide polymorphisms to be genotyped were selected from mRNA profiling in patients with severe vs mild DMD, and genome-wide association studies in metabolism and polymorphisms influencing muscle phenotypes in normal volunteers were studied.

Results

Effects on b

SUBMITTER: Pegoraro E 

PROVIDER: S-EPMC3034396 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature