Osteoporosis is the loss in bone mineral density that results in a more frequent ocurrence of fractures.
The current genetic parameters of osteoporosis can only help to estimate the risk but not the cause. Thats why the genetic testing should be considered early in the diagnostic process.
Osteoporosis develops when osteoclasic processes dominate over osteoblastic processes. Osteoporosis is a frequent disease thats why the undelying genetic disturbances must be frequent too. A lot of genes involved in bone metabolism are possible candidates responsible for osteoporosis. Association of mutations in some of these genes and osteoporosis has been established but the link between genetic disturbance and real disease is not well clarifyed yet.
Metabolic bone disease | ||||
Hereditary Rickets | ||||
Inherited human diseases of heterotopic bone formation | ||||
Osteopetrosis | ||||
Osteoporosis/renal Osteodystrophy | ||||
CASR | ||||
LRP5 | ||||
RXRA | ||||
VDR | ||||
Pseudohypoparathyroidism | ||||
2. |
Brandi ML et al. (2001) Genetic markers of osteoarticular disorders: facts and hopes. |
3. |
Alvarez-Hernández D et al. (2003) Influence of polymorphisms in VDR and COLIA1 genes on the risk of osteoporotic fractures in aged men. |
5. |
Gómez Alonso C et al. (1998) Vitamin D receptor gene (VDR) polymorphisms: effect on bone mass, bone loss and parathyroid hormone regulation. |
6. |
OMIM.ORG article Omim 166710 |
7. |
Wikipedia article Wikipedia EN (Osteoporosis) |