Abstract: Osteoporosis is a prevalent disease that typically reduces bone strength and predisposes to fractures. It is a multifactorial disorder resulting from the interaction of genetic and acquired factors. Candidate gene studies and, more recently, genome-wide studies have identified a number of polymorphisms significantly associated with bone mass and fractures. Anti-resorptive drugs, which inhibit the differentiation and activity of osteoclasts, are frequently used to treat patients with osteoporosis.Several candidate gene studies have explored the association of genetic factors with drug response, including some common polymorphisms of the gene encoding FDPS (Farnesyl diphosphate synthase), an enzyme that is the main target of aminobisphosphonates. Although scarce data are available, interesting opportunities are open for a better understanding of the pharmacogenetics of osteoporosis and osteoporotic fractures. They include the reanalysis of data already available from epidemiological studies and clinical trials, as well as obtaining pharmacogenetic data in new studies. However, based upon the experience with previous genome-wide association studies, large collaborative efforts would be likely needed to obtain meaningful results.

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