title: [Bone disease with vitamin D receptor abnormality].
abstract: In humans, the vitamin D receptor (VDR) gene has been localized to the chromosomal locus 12q13-14. The gene is composed of a minimum of nine exons. Hereditary 1,25-dihydroxyvitamin D resistant rickets (HVDRR) known as vitamin D dependent rickets type II is a rare autosomal recessive disease that arises as a result of mutations in the gene encoding the VDR. Genetic factors play a key role in determining bone mass, which is an important predictor of osteoporosis. Recently, polymorphism at the VDR locus has been implicated as a genetic marker for bone mineral density. Vitamin D receptor gene start codon polymorphisms, and 3'-end region polymorphisms may modulate bone density.
authors.affiliation: Department of Pediatrics, Juntendo University School of Medicine.
authors.forename: Akifumi
authors.initials: A
authors.lastname: Tokita
authors.forename: Ken
authors.initials: K
authors.lastname: Hisada
authors.forename: Kyoko
authors.initials: K
authors.lastname: Nishizawa
mesh_terms: D000818:Animals; D006801:Humans; D007015:Hypophosphatemia, Familial / Q000235:genetics*; D051379:Mice; D009154:Mutation; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol