Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.

doi:10.1016/j.ajhg.2016.08.023

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Article

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy.

American journal of human genetics - 3 Nov 2016

Bello Luca, Flanigan Kevin M, Weiss Robert B, Spitali Pietro, Aartsma-Rus Annemieke, Muntoni Francesco, Zaharieva Irina, Ferlini Alessandra, Mercuri Eugenio, Tuffery-Giraud Sylvie, Claustres Mireille, Straub Volker, Lochmüller Hanns, Barp Andrea, Vianello Sara, Pegoraro Elena, Punetha Jaya, Gordish-Dressman Heather, Giri Mamta, McDonald Craig M, Hoffman Eric P

Abstract excerpt

The expressivity of Mendelian diseases can be influenced by factors independent from the pathogenic mutation: in Duchenne muscular dystrophy (DMD), for instance, age at loss of ambulation (LoA) varies between individuals whose DMD mutations all abolish dystrophin expression. This suggests the existence of trans-acting variants in modifier genes. Common single nucleotide polymorphisms (SNPs) in candidate genes...

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Identifiers

PMID: 27745838
DOI: 10.1016/j.ajhg.2016.08.023
PMCID: PMC5097949

Genes

DMD
LTBP4
SPP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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