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.

Systematic

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
GDF5

References:

1.

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

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2.

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

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3.

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.

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4.

OMIM.ORG article

Omim 612400 [^]
Update: April 29, 2019