Pharmacogenetics of osteoporosis

Abstract

Osteoporosis is the most common and serious skeletal disorder of the elderly; it is characterized by reduced bone mass and deterioration of bone microarchitecture, with an increased risk of low-trauma fractures. Genetic factors are important predisposing elements influencing individual bone strength variability and susceptibility to osteoporosis and related complications. The genetics of osteoporosis encompasses two main areas: disease susceptibility and pharmacogenetics of drug response. The former has been widely studied while the latter is still largely untouched. Pharmacogenetics is the study of relationships between genetic variations and inter-individual differences in drug response in terms of efficacy and adverse effects, representing an opportunity to identify new biomarkers for drug development and drug response. However, pharmacogenetic approaches to osteoporosis are still in their infancy, needing to be developed further and combined with functional studies. This article provides an overview on the current basic research applications in the pharmacogenetics of osteoporosis and their implications for clinical practice.

Keywords::

• gene variation
• individual drug response
• osteoporosis
• pharmacogenetics

Financial & competing interests disclosure

This work was supported by a grant of the Fondazione Ente Cassa di Risparmio di Firenze and FIRMO Fondazione Raffaella Becagli to Maria Luisa Brandi. Francesca Marini received the Amgen-Dompè fellowship, dedicated to Professor Isa Coghi from Osservatorio Nazionale Salute Donna. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.