Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in Duchenne muscular dystrophy.
Weiss RB, Vieland VJ, Dunn DM et al.
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Abstract
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Objective: Duchenne muscular dystrophy (DMD) is a severe X-linked recessive disease caused by loss-of-function dystrophin (DMD) mutations in boys, who typically suffer loss of ambulation by age 12. Previously, we reported that coding variants in latent transforming growth factor beta (TGFβ)-binding protein 4 (LTBP4) were associated with reduced TGFβ signaling and prolonged ambulation (p = 1.0 × 10-3 ) in DMD patients; this result was subsequently replicated by other groups. In this study, we evaluated whether additional DMD modifier genes are observed using whole-genome association in the original cohort.
243 European ancestry cases, 10 cases
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