Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Osteoarthritis susceptibility 5

Some genetic variants of the GDF5 gene seem to indicate osteoarthritis susceptibility, of the hip in paticular.


Hereditary bone disease
Acro-renal-ocular syndrome
Albright hereditary osteodystrophy
Bone dysplasia
Ehlers-Danlos syndrome due to tenascin-X deficiency
Familial expansile osteolysis
IVIC syndrome
Juvenile Paget disease
Kabuki syndrome
Metabolic bone disease
Osteoarthritis susceptibility 5



Miyamoto Y et al. (2007) A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis.


Masuya H et al. (2007) A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice.


Dodd AW et al. (2013) A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression.


OMIM.ORG article

Omim 612400 [^]
Update: April 29, 2019