Gennari Luigi, Merlotti Daniela, De Paola Vincenzo, Martini Giuseppe, Nuti Ranuccio
Department of Internal Medicine, Endocrine-Metabolic Sciences & Biochemistry, University of Siena, Viale Bracci 1, 53100 Siena, Italy.
Pharmacogenomics. 2009 Mar;10(3):417-33. doi: 10.2217/14622416.10.3.417.
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, an 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.
维生素D和钙对于正常骨骼生长以及维持骨骼的机械和结构完整性至关重要。钙和维生素D摄入量减少可能与骨量减少和骨质疏松症有关，而慢性和严重的维生素D缺乏可能导致骨软化症。鉴于维生素D在骨稳态中的重要性，维生素D受体基因的常见多态性首先被作为骨量和骨折风险的可能决定因素进行研究。尽管结果仍存在争议，且这些多态性影响受体活性的分子机制仍有待部分研究，但它们潜在的药物基因组学和药物遗传学意义是另一个重要问题。本综述分析了维生素D受体基因多态性与骨质疏松症的主要药物遗传学研究。
