Update on the pharmacogenetics of the vitamin D receptor and osteoporosis

Luigi Gennari, Daniela Merlotti, Vincenzo De Paola, Giuseppe Martini, Ranuccio Nuti

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

Vitamin D and calcium are essential for normal skeletal growth and for maintaining the mechanical and structural integrity of the skeleton. Reduced intake of calcium and vitamin D may be associated with reduced bone mass and osteoporosis while a chronic and severe vitamin D deficiency may lead to osteomalacia. Given the importance of vitamin D in bone homeostasis, common polymorphisms in the vitamin D receptor gene were the first to be investigated as possible determinants of bone mass and fracture risk. Even though results are still conflicting and the molecular mechanisms by which these polymorphisms influence receptor activity remain in part to be investigated, and additional important issue is represented by their potential pharmacogenomic and pharmacogenetic implications. This review analyzes major pharmacogenetic studies of polymorphisms in the vitamin D receptor gene and osteoporosis.

Original languageEnglish
Pages (from-to)417-433
Number of pages17
JournalPharmacogenomics
Volume10
Issue number3
DOIs
Publication statusPublished - 2009

Fingerprint

Calcitriol Receptors
Pharmacogenetics
Vitamin D
Osteoporosis
Calcium
Bone and Bones
Osteomalacia
Vitamin D Deficiency
Bone Fractures
Skeleton
Genes
Homeostasis
Growth

Keywords

  • Bone mineral density
  • Calcium
  • Fractures
  • Osteoporosis
  • Pharmacogenetics
  • Pharmacogenomics
  • Vitamin D
  • Vitamin D receptor

ASJC Scopus subject areas

  • Genetics
  • Molecular Medicine
  • Pharmacology

Cite this

Gennari, L., Merlotti, D., De Paola, V., Martini, G., & Nuti, R. (2009). Update on the pharmacogenetics of the vitamin D receptor and osteoporosis. Pharmacogenomics, 10(3), 417-433. https://doi.org/10.2217/14622416.10.3.417

Update on the pharmacogenetics of the vitamin D receptor and osteoporosis. / Gennari, Luigi; Merlotti, Daniela; De Paola, Vincenzo; Martini, Giuseppe; Nuti, Ranuccio.

In: Pharmacogenomics, Vol. 10, No. 3, 2009, p. 417-433.

Research output: Contribution to journalArticle

Gennari, L, Merlotti, D, De Paola, V, Martini, G & Nuti, R 2009, 'Update on the pharmacogenetics of the vitamin D receptor and osteoporosis', Pharmacogenomics, vol. 10, no. 3, pp. 417-433. https://doi.org/10.2217/14622416.10.3.417
Gennari, Luigi ; Merlotti, Daniela ; De Paola, Vincenzo ; Martini, Giuseppe ; Nuti, Ranuccio. / Update on the pharmacogenetics of the vitamin D receptor and osteoporosis. In: Pharmacogenomics. 2009 ; Vol. 10, No. 3. pp. 417-433.
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