Osteoporosis y polimorfismos del gen del receptor de vitamina D

Association studies of bone mineral density and polymorphisms of the vitamin D receptor gene have reported contradictory results. Meta-analyses of these studies indicate that certain Bsm I genotypes have a small effect on bone mineral density. Other polymorphisms of the vitamin D receptor gene, such as the restriction site Fok I and the binding site for Cdx2, have functional effects, either on vitamin D receptor mRNA synthesis or its stability, with final consequences on the quantity and/or function of vitamin D receptor protein. Studies of the interactions among these polymorphisms and others from different candidate genes, as well as of the interactions among gene/environmental factors, may lead to greater insight into this issue. Advances in the knowledge of the genetic basis of osteoporosis could be useful not only to identify individuals prone to developing osteoporosis, but also to design new drugs for the prevention and treatment of bone disease.