Pharmacogenetics of the Vitamin D Receptor and Osteoporosis

摘要: Osteoporosis is a major health care problem internationally with important implications for costs, morbidity, and mortality. Bone density, an predictor of osteoporotic fracture risk, affected by hormonal environmental factors. However, in twin family studies most its age-specific variance genetically determined. Common allelic variations the vitamin D receptor (VDR) gene were first to be linked bone density. Recently, other candidate genes, notably oestrogen receptor, collagen 1alphaI, PTH genes chromosome 11 locus, have been associated density fracture. Polymorphisms adjacent regulatory regions may mechanisms since functional coding region mutations not defined. For example, polymorphic 1alphaI alters SpI binding site alter expression. At pharmacogenetic level, VDR alleles predict differences gut calcium absorption long-term response intake active analog treatment. Understanding underlying these relation diet lifestyle factors as well therapy could aid selection optimal osteoporosis prevention