Genetics of Dupuytren's Disease - Archive ouverte HAL Accéder directement au contenu
Article Dans Une Revue Joint Bone Spine Année : 2012

Genetics of Dupuytren's Disease

Résumé

Dupuytren's disease (DD) is a progressive fibrosis of the palmar fascia characterized by the formation of a nodule, which evolves into a cord. DD is the most common hereditary disease of the connective tissue preferentially affecting Caucasoids originating from Northern Europe. Some environmental factors are associated with DD, namely alcohol consumption, tobacco exposure and, possibly, manual activities. Diabetes and epilepsy are the most frequently reported DD-associated diseases. The genetic mode of inheritance is not well understood, but seems to be heterogeneous: most frequently, autosomal dominant with variable penetrance, and rarely recessive autosomal or maternal (matrilinear), suggesting a mitochondrial heredity. Initially, a suggestion of linkage with the DUPC1 locus at 16q was proposed. Then, among the genomic variations observed in DD, alterations in the copy number of genes in chromosomal regions 10q22, 16p12.1 and 17p12, associations with the HLA-DRB1*15 allele and a mutation in the rRNA 16s identified in forms with a matrilinear heredity, were reported. Finally, a genome-wide study has shown a genetic association of DD with 6, 11 and 16. chromosomes. Pathophysiology of DD involves mainly myofibroblasts and the extracellular matrix of collagen. Gene and protein expression studies have confirmed the central role of the β catenin of the TGFβ pathways in the pathogenesis of DD. © 2011 Société française de rhumatologie.
Fichier non déposé

Dates et versions

hal-02084410 , version 1 (29-03-2019)

Identifiants

Citer

Laëtitia Michou, Jean-Luc Lermusiaux, Jean-Pierre Teyssedou, Thomas Bardin, Johann Beaudreuil, et al.. Genetics of Dupuytren's Disease. Joint Bone Spine, 2012, 79 (1), pp.7--12. ⟨10.1016/j.jbspin.2011.05.027⟩. ⟨hal-02084410⟩

Collections

UNIV-EVRY GENHOTEL
30 Consultations
0 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More