Osteoporosis, genetic

EDTA Blood, 1ml

or oral mucosa (eSwab)

Bone density is subject to numerous hormonal influences, including those of growth hormones, sex hormones and steroid hormones, but there are also predisposing genetic factors that have an influence on overall bone density and the risk of osteoporosis, especially in women after menopause or people of old age.

It was shown that certain polymorphisms in the genes Col1A1 and VDR3 are associated with bone density and the risk for osteoporosis and fractures.


Col1A1:
rs1800012; NM_000088.4:c.104-441G>T
- genotype SS (GG): associated with normal bone density
- genotype Ss (GT): associated with normal bone density
- genotype ss (TT): associated with slightly reduced bone density and a higher risk for osteoporosis


VDR3:
rs1544410; NM_000376.3:c.1024+283G>A
- genotype BB (AA): associated with reduced bone density and an increased risk for osteoporosis
- genotype Bb (AG): associated with slightly increased risk for osteoporosis (RR 1.5)
- genotype bb (GG): associated with normal bone density


Patients with a genetic predisposition for reduced bone density and a higher risk for osteoporosis can take steps to prevent loss of bone mass and possible consequences by taking measures like exercising, ensureing a diet rich in calcium and protein, appropriate levels of vitamin D, only little alcohol consumption, no smoking and weight control.