Osteoporosis is a chronic progressive disease, characterized by higher bone resorption than bone mass accumulation.
This leads to reduction of the bone mass, to microarchitectural deterioration of the bone tissue and to the increased
risk of bone fracture. Osteoporosis affects predominately postmenopausal females, but it is also diagnosed at elderly
males. Although osteoporosis is influenced by various environmental factors (mainly by dietary habits and physical
activity), analysis of results obtained from studies with different designs (population-, family-, association- studies)
confirmed, that risk of osteoporosis development and risk of osteoporotic fractures are significantly influenced by
genetic predispositions. The genetic determination of osteoporosis is not yet completely understood. However, it is
clear, that although there are mutations in some genes causing rare form of osteoporosis, osteoporosis is a polygenic
disease - it is influenced by common variants (polymorphisms) of several different genes. For example genes for vitamin
D receptor, estrogen receptor α, collagen type I α1, transforming growth factor ß-1 and some others are indicated
to play a role in genetic determination of osteoporosis. In this review we summarize our recent knowledge about
the genetic determination of osteoporosis.
inheritance, polymorphisms, mutation, osteoporosis.