Osteoporosis

Osteoporosis is characterized by reduction in bone mass and structural deterioration of bone tissue with a high risk of fractures. The bone mass depends on the balance between bone formation by osteoblasts and bone resorption by osteoclasts. Osteoblasts are derived from mesenchyme cells under the regulations of several transcription factors such as Cbfa-1, Osterix, Krox-20, Fra-1, Dlx5 and Twist. Differentiation of osteoclasts from the monocyte/macrophage lineage involves estrogen and RANK. 

Review Articles:

• Fat’s loss is bone’s gain - J. Clin. Invest., 2004.
• Bones, genes and fractures - EMBO Reports, 2002.
• Molecular studies of gene identification for osteoporosis: The 2002 update - J. Endocrinology, 2002.
• RANK ligand and osteoprotegerin in myeloma bone disease - Blood, 2003.

Associated Genes

AHSG
Encodes alpha-2-HS-glycoprotein.

AR
Encodes androgen receptor.

BGLAP
Encodes bone gamma-carboxyglutamate protein (osteocalcin).

CALCA
Encodes calcitonin.

CALCR
Encodes calcitonin receptor.

CASR
Encodes calcium-sensing receptor.

COL1A1
Encodes the alpha-1 chain of type I collagen.

COL1A2
Encodes the alpha-2 chain of type I collagen.

CYP19
Encodes cytochrome P450, family 19.

ESR1
Encodes estrogen receptor 1 (alpha).

ESR2
Encodes estrogen receptor 2 (beta).

FOSL1 (FRA-1)
Encodes FOS-like antigen 1.

IGF1
Encodes insulin-like growth factor 1.

IL6
Encodes interleukin-6.

IL1RN
Encodes interleukin 1 receptor antagonist.

KL
Encodes klotho protein.

MTHFR
Encodes methylenetetrahydrofolate reductase (NADPH).

NR3C1
Encodes glucocorticoid receptor.

OPG
Encodes osteoprotegerin (tumor necrosis factor receptor superfamily, member 11b).

PPARG
Encodes peroxisome proliferative activated receptor, gamma (reference).

PTH
Encodes parathyroid hormone.

PTHR1
Encodes parathyroid hormone receptor 1.

RUNX2
Encodes runt-related transcription factor 2.

TGFB1
Encodes transforming growth factor, beta 1.

TNF
Encodes tumor necrosis factor.

TNFR2
Encodes tumor necrosis factor receptor 2.

VDR
Encodes vitamin D receptor.

WRN
Encodes Werner Syndrome helicase.