rs11017928 - DOCK1

Magnitude 2.0 · 1 study on file

Reported associations

• Long-range genomic regulators of THBS1 and LTBP4 modify disease severity in Duchenne muscular dystrophy - Unknown journal (n.d.) · Unknown authors · PubMed 30014611

  ABSTRACT: 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-binding protein 4 (LTBP4) were associated with reduced TGFβ signaling and prolonged ambulation (p-value = 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. Methods We performed a genome-wide association study (GWAS) for SNPs influencing loss of ambulation (LOA) in the same cohort of 253 DMD patients used to detect the candidate ass

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.