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Article

Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy.

European journal of human genetics : EJHG - 1 Jul 2026

Vieland Veronica J, Seok Sang-Cheol, Waldrop Megan A, Gabel Leigh M, Dunn Diane M, Flanigan Kevin M, Weiss Robert B

Abstract excerpt

This paper continues our development of methods for discovery of genetic modifiers of the Duchenne muscular dystrophy (DMD) phenotype. DMD is an X-linked recessive disorder involving progressive muscle tissue loss with replacement by fat and fibrotic tissue, leading in most cases to loss of ambulation (LOA) by early to mid-adolescence. The standard pharmacologic treatment is corticosteroid administration, which...

Topics

Humans
Muscular Dystrophy, Duchenne
Transforming Growth Factor beta
Adrenal Cortex Hormones
Gene-Environment Interaction
Genes, Modifier
Signal Transduction
Dystrophin
Male
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 42010352
DOI: 10.1038/s41431-026-02110-0
PMCID: PMC13342305

Genes

DMD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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