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Review

Genetic and acquired factors influencing the effectiveness and toxicity of drug therapy in osteoporosis

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Pages 389-398 | Received 24 Nov 2015, Accepted 11 Feb 2016, Published online: 03 Mar 2016

References

  • Lorentzon M, Cummings SR, Osteoporosis: the evolution of a diagnosis. J Intern Med. 2015;277:650–661.
  • Johnell O, Kanis JA, Oden A, et al. Predictive value of BMD for hip and other fractures. J Bone Miner Res. 2005;20:1185–1194.
  • Ammann P, Rizzoli R. Bone strength and its determinants. Osteoporos Int. 2003;14(Suppl 3):S13–S18.
  • Iolascon G, Moretti A, Cannaviello G, et al. Proximal femur geometry assessed by hip structural analysis in hip fracture in women. Aging Clin Exp Res. 2015;27(Suppl 1):17–21.
  • Leslie WD, Lix LM, Morin SN, et al. Hip axis length is a FRAX- and bone density-independent risk factor for hip fracture in women. J Clin Endocrinol Metab. 2015;100:2063–2070.
  • Hernandez CJ. How can bone turnover modify bone strength independent of bone mass? Bone. 2008;42:1014–1020.
  • Ritchie RO. How does human bone resist fracture? Ann N Y Acad Sci. 2010;1192:72–80.
  • Ritchie RO. The conflicts between strength and toughness. Nat Mater. 2011;10:817–822.
  • Guerri-Fernandez RC, Nogues X, Quesada Gomez JM, et al. Microindentation for in vivo measurement of bone tissue material properties in atypical femoral fracture patients and controls. J Bone Miner Res. 2013;28:162–168.
  • Mellibovsky L, Prieto-Alhambra D, Mellibovsky F, et al. Bone tissue properties measurement by reference point indentation in glucocorticoid-induced osteoporosis. J Bone Miner Res. 2015;30:1651–1656.
  • Parfitt AM. The mechanism of coupling. Bone. 2000;26:319–323.
  • Hofbauer LC, Heufelder AE. Role of receptor activator of nuclear factor-kappaB ligand and osteoprotegerin in bone cell biology. J Mol Med. 2001;79:243–253.
  • Sambrook P, Cooper C. Osteoporosis. Lancet. 2006;367:2010–2018.
  • Krane SM. Identifying genes that regulate bone remodeling as potential therapeutic targets. J Exp Med. 2005;201:841–843.
  • Gua¤abens N, Peris P, Monegal A. Bone turnover markers: a clinical review. Clin Rev Bone Miner Metab. 2015;13:83–97.
  • Khosla S. Update on estrogens and the skeleton. J Clin Endocrinol Metab. 2010;95:3569–3577.
  • Hopkins RB, Goeree R, Pullenayegum E, et al. The relative efficacy of nine osteoporosis medications for reducing the rate of fractures in post-menopausal women. BMC Musculoskelet Disord. 2011;12:209.
  • Murad MH, Drake MT, Mullan RJ, et al. Clinical review. Comparative effectiveness of drug treatments to prevent fragility fractures: a systematic review and network meta-analysis. J Clin Endocrinol Metab. 2012;97:1871–1880.
  • Rogers MJ, Crockett JC, Coxon FP, et al. Biochemical and molecular mechanisms of action of bisphosphonates. Bone. 2011;49:34–41.
  • Russell RG, Watts NB, Ebetino FH, et al. Mechanisms of action of bisphosphonates: similarities and differences and their potential influence on clinical efficacy. Osteoporos Int. 2008;19:733–759.
  • Bellido T, Plotkin LI. Novel actions of bisphosphonates in bone: preservation of osteoblast and osteocyte viability. Bone. 2011;49:50–55.
  • Cummings SR, San Martin J, McClung MR, et al. Denosumab for prevention of fractures in postmenopausal women with osteoporosis. N Engl J Med. 2009;361:756–765.
  • Jilka RL, Weinstein RS, Bellido T, et al. Increased bone formation by prevention of osteoblast apoptosis with parathyroid hormone. J Clin Invest. 1999;104:439–446.
  • Tian Y, Xu Y, Fu Q, et al. Parathyroid hormone regulates osteoblast differentiation in a Wnt/beta-catenin-dependent manner. Mol Cell Biochem. 2011;355:211–216.
  • Whitfield JF, Morley P, Willick GE. Parathyroid hormone, its fragments and their analogs for the treatment of osteoporosis. Trends Endocrinol. 2002;1:175–190.
  • Linkhart TA, Mohan S. Parathyroid hormone stimulates release of insulin-like growth factor-I (IGF-I) and IGF-II from neonatal mouse calvaria in organ culture. Endocrinology. 1989;125:1484–1491.
  • Bellido T. Downregulation of SOST/sclerostin by PTH: a novel mechanism of hormonal control of bone formation mediated by osteocytes. J Musculoskelet Neuronal Interact. 2006;6:358–359.
  • Keller H, Kneissel M. SOST is a target gene for PTH in bone. Bone. 2005;37:148–158.
  • Mirza FS, Padhi ID, Raisz LG, et al. Serum sclerostin levels negatively correlate with parathyroid hormone levels and free estrogen index in postmenopausal women. J Clin Endocrinol Metab. 2010;95:1991–1997.
  • McClung MR, Grauer A, Boonen S, et al. Romosozumab in postmenopausal women with low bone mineral density. N Engl J Med. 2014;370:412–420.
  • Cheung AM, Majumdar S, Brixen K, et al. Effects of odanacatib on the radius and tibia of postmenopausal women: improvements in bone geometry, microarchitecture, and estimated bone strength. J Bone Miner Res. 2014;29:1786–1794.
  • Brixen K, Chapurlat R, Cheung AM, et al. Bone density, turnover, and estimated strength in postmenopausal women treated with odanacatib: a randomized trial. J Clin Endocrinol Metab. 2013;98:571–580.
  • Muise ES, Podtelezhnikov AA, Pickarski M, et al. Effects of long-term odanacatib treatment on bone gene expression in ovariectomized adult rhesus monkeys – differentiation from alendronate. J Bone Miner Res. Forthcoming 2015.
  • Diez-Perez A, Gonzalez-Macias J. Inadequate responders to osteoporosis treatment: proposal for an operational definition. Osteoporos Int. 2008;19:1511–1516.
  • Diez-Perez A, Adachi JD, Agnusdei D, et al. Treatment failure in osteoporosis. Osteoporos Int. 2012;23:2769–2774.
  • Wen L, Kang J-H, Yim Y-R, et al. Risk factors for treatment failure in osteoporotic patients with rheumatoid arthritis. Mod Rheumatol. Forthcoming 2015;1–6.
  • Diez-Perez A, Adachi JD, Adami S, et al. Risk factors for treatment failure with antiosteoporosis medication: the global longitudinal study of osteoporosis in women (GLOW). J Bone Miner Res. 2014;29:260–267.
  • Hawley S, Javaid MK, Rubin KH, et al. Incidence and predictors of multiple fractures despite high adherence to oral bisphosphonates: a binational population-based cohort study. J Bone Miner Res. 2016;31:234–244.
  • Cairoli E, Eller-Vainicher C, Ulivieri FM, et al. Factors associated with bisphosphonate treatment failure in postmenopausal women with primary osteoporosis. Osteoporos Int. 2014;25:1401–1410.
  • Riancho JA, Hernandez JL. Pharmacogenomics of osteoporosis: a pathway approach. Pharmacogenomics. 2012;13:815–829.
  • Riancho JA, Perez-Campo FM, Pharmacogenomics of osteoporotic fractures. Methods Mol Biol. 2014;1175:661–670.
  • Marini F, Brandi ML, Pharmacogenetics of osteoporosis. Best Pract Res Clin Endocrinol Metab. 2014;28:783–793.
  • Mencej-Bedrac S, Zupan J, Mlakar SJ, et al. Raloxifene pharmacodynamics is influenced by genetic variants in the RANKL/RANK/OPG system and in the Wnt signaling pathway. Drug Metabol Drug Interact. 2014;29:111–114.
  • Zhou PR, Liu HJ, Liao EY, et al. LRP5 polymorphisms and response to alendronate treatment in Chinese postmenopausal women with osteoporosis. Pharmacogenomics. 2014;15:821–831.
  • Zhou P-R, Xu X-J, Zhang Z-L, et al. SOST polymorphisms and response to alendronate treatment in postmenopausal Chinese women with osteoporosis. Pharmacogenomics. 2015;16:1077–1088.
  • Hartmaier RJ, Richter AS, Gillihan RM, et al. A SNP in steroid receptor coactivator-1 disrupts a GSK3beta phosphorylation site and is associated with altered tamoxifen response in bone. Mol Endocrinol. 2012;26:220–227.
  • Kruk M, Ralston SH, Albagha OM. LRP5 polymorphisms and response to risedronate treatment in osteoporotic men. Calcif Tissue Int. 2009;84:171–179.
  • Olmos JM, Zarrabeitia MT, Hernandez JL, et al. Common allelic variants of the farnesyl diphosphate synthase gene influence the response of osteoporotic women to bisphosphonates. Pharmacogenomics J. 2012;12:227–232.
  • Marini F, Falchetti A, Silvestri S, et al. Modulatory effect of farnesyl pyrophosphate synthase (FDPS) rs2297480 polymorphism on the response to long-term amino-bisphosphonate treatment in postmenopausal osteoporosis. Curr Med Res Opin. 2008;24:2609–2615.
  • Choi HJ, Choi JY, Cho SW, et al. Genetic polymorphism of geranylgeranyl diphosphate synthase (GGSP1) predicts bone density response to bisphosphonate therapy in Korean women. Yonsei Med J. 2010;51:231–238.
  • Yi L, Haijuan L, Mei L, et al. Association of farnesyl diphosphate synthase polymorphisms and response to alendronate treatment in Chinese postmenopausal women with osteoporosis. Chin Med J (Engl). 2014;127:662–668.
  • Reid IR, Bolland MJ, Grey A. Effects of vitamin D supplements on bone mineral density: a systematic review and meta-analysis. Lancet. 2014;383:146–155.
  • Avenell A, Mak JC, O’Connell D. Vitamin D and vitamin D analogues for preventing fractures in post-menopausal women and older men. Cochrane Database Syst Rev. 2014;4:CD000227.
  • Weaver CM, Alexander DD, Boushey CJ, et al. Calcium plus vitamin D supplementation and risk of fractures: an updated meta-analysis from the National Osteoporosis Foundation. Osteoporos Int. 2016;27:367–376.
  • Shen H, Xie J, Lu H, Vitamin D receptor gene and risk of fracture in postmenopausal women: a meta-analysis. Climacteric. 2014;17:319–324.
  • Qin G, Dong Z, Zeng P, et al. Association of vitamin D receptor BsmI gene polymorphism with risk of osteoporosis: a meta-analysis of 41 studies. Mol Biol Rep. 2013;40:497–506.
  • Jia F, Sun R-F, Li Q-H, et al. Vitamin D receptor BsmI polymorphism and osteoporosis risk: a meta-analysis from 26 studies. Genet Test Mol Biomarkers. 2013;17:30–34.
  • Levin GP, Robinson-Cohen C, De Boer IH, et al. Genetic variants and associations of 25-hydroxyvitamin D concentrations with major clinical outcomes. JAMA. 2012;308:1898–1905.
  • Wang D, Liu R, Zhu H, et al. Vitamin D receptor Fok I polymorphism is associated with low bone mineral density in postmenopausal women: a meta-analysis focused on populations in Asian countries. Eur J Obstet Gynecol Reprod Biol. 2013;169:380–386.
  • Wang TJ, Zhang F, Richards JB, et al. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet. 2010;376:180–188.
  • Nimitphong H, Saetung S, Chanprasertyotin S, et al. Changes in circulating 25-hydroxyvitamin D according to vitamin D binding protein genotypes after vitamin D(3) or D(2)supplementation. Nutr J. 2013;12:39.
  • Neyestani TR, Djazayery A, Shab-Bidar S, et al. Vitamin D receptor Fok-I polymorphism modulates diabetic host response to vitamin D intake: need for a nutrigenetic approach. Diabetes Care. 2013;36:550–556.
  • Poon AH, Gong L, Brasch-Andersen C, et al. Very important pharmacogene summary for VDR. Pharmacogenet Genomics. 2012;22:758–763.
  • Hernandez JL, Riancho JA. Pharmacogenomics of osteoporosis. Curr Pharmacogenom. 2007;5:214–227.
  • Alonso N, Riches P, Langdahl B, et al. Genome-wide analysis identifies significant predictors of therapeuric response to teriparatide in severe osteoporosis. J Bone Miner Res. 2015;30(suppl):S440.
  • Bulun SE, Sebastian S, Takayama K, et al. The human CYP19 (aromatase P450) gene: update on physiologic roles and genomic organization of promoters. J Steroid Biochem Mol Biol. 2003;86:219–224.
  • Riancho JA, Zarrabeitia MT, Valero C, et al. Aromatase gene and osteoporosis: relationship of ten polymorphic loci with bone mineral density. Bone. 2005;36:917–925.
  • Valero C, Perez-Castrillon JL, Zarrabeitia MT, et al. Association of aromatase and estrogen receptor gene polymorphisms with hip fractures. Osteoporos Int. 2008;19:787–792.
  • Riancho JA, Valero C, Naranjo A, et al. Identification of an aromatase haplotype that is associated with gene expression and postmenopausal osteoporosis. J Clin Endocrinol Metab. 2007;92:660–665.
  • Riancho JA, Sanudo C, Valero C, et al. Association of the aromatase gene alleles with BMD: epidemiological and functional evidence. J Bone Miner Res. 2009;24:1709–1718.
  • Napoli N, Rastelli A, Ma C, et al. Genetic polymorphism at Val80 (rs700518) of the CYP19A1 gene is associated with aromatase inhibitor associated bone loss in women with ER + breast cancer. Bone. 2013;55:309–314.
  • Artigalas O, Vanni T, Hutz MH, et al. Influence of CYP19A1 polymorphisms on the treatment of breast cancer with aromatase inhibitors: a systematic review and meta-analysis. BMC Med. 2015;13:139.
  • Oesterreich S, Henry NL, Kidwell KM, et al. Associations between genetic variants and the effect of letrozole and exemestane on bone mass and bone turnover. Breast Cancer Res Treat. 2015;154:263–273.
  • Reuther T, Schuster T, Mende U, et al. Osteoradionecrosis of the jaws as a side effect of radiotherapy of head and neck tumour patients–a report of a thirty year retrospective review. Int J Oral Maxillofac Surg. 2003;32:289–295.
  • Ruggiero SL, Mehrotra B, Rosenberg TJ, et al. Osteonecrosis of the jaws associated with the use of bisphosphonates: a review of 63 cases. J Oral Maxillofac Surg. 2004;62:527–534.
  • Marx RE. Pamidronate (Aredia) and zoledronate (Zometa) induced avascular necrosis of the jaws: a growing epidemic. J Oral Maxillofac Surg. 2003;61:1115–1117.
  • Khosla S, Burr D, Cauley J, et al. Bisphosphonate-associated osteonecrosis of the jaw: report of a task force of the American society for bone and mineral research. J Bone Miner Res. 2007;22:1479–1491.
  • Advisory Task Force on Bisphosphonate-Related Ostenonecrosis of the Jaws AAoOaMS. American association of oral and maxillofacial surgeons position paper on bisphosphonate-related osteonecrosis of the jaws. J Oral Maxillofac Surg. 2007;65:369–376.
  • Filleul O, Crompot E, Saussez S. Bisphosphonate-induced osteonecrosis of the jaw: a review of 2,400 patient cases. J Cancer Res Clin Oncol. 2010;136:1117–1124.
  • King AE, Umland EM. Osteonecrosis of the jaw in patients receiving intravenous or oral bisphosphonates. Pharmacotherapy. 2008;28:667–677.
  • Khan AA, Morrison A, Hanley DA, et al. Diagnosis and management of osteonecrosis of the jaw: a systematic review and international consensus. J Bone Miner Res. 2015;30:3–23.
  • Khan A, Morrison A, Cheung A, et al. Osteonecrosis of the jaw (ONJ): diagnosis and management in 2015. Osteoporos Int. Forthcoming 2015.
  • Yamazaki T, Yamori M, Yamamoto K, et al. Risk of osteomyelitis of the jaw induced by oral bisphosphonates in patients taking medications for osteoporosis: a hospital-based cohort study in Japan. Bone. 2012;51:882–887.
  • Jadu F, Lee L, Pharoah M, et al. A retrospective study assessing the incidence, risk factors and comorbidities of pamidronate-related necrosis of the jaws in multiple myeloma patients. Ann Oncol. 2007;18:2015–2019.
  • Wessel JH, Dodson TB, Zavras AI. Zoledronate, smoking, and obesity are strong risk factors for osteonecrosis of the jaw: a case-control study. J Oral Maxillofac Surg. 2008;66:625–631.
  • Zervas K, Verrou E, Teleioudis Z, et al. Incidence, risk factors and management of osteonecrosis of the jaw in patients with multiple myeloma: a single-centre experience in 303 patients. Br J Haematol. 2006;134:620–623.
  • Sarasquete ME, Garcia-Sanz R, Marin L, et al. Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis. Blood. 2008;112:2709–2712.
  • Such E, Cervera J, Terpos E, et al. CYP2C8 gene polymorphism and bisphosphonate-related osteonecrosis of the jaw in patients with multiple myeloma. Haematologica. 2011;96:1557–1559.
  • English BC, Baum CE, Adelberg DE, et al. A SNP in CYP2C8 is not associated with the development of bisphosphonate-related osteonecrosis of the jaw in men with castrate-resistant prostate cancer. Ther Clin Risk Manag. 2010;6:579–583.
  • Nicoletti P, Cartsos VM, Palaska PK, et al. Genomewide pharmacogenetics of bisphosphonate-induced osteonecrosis of the jaw: the role of RBMS3. Oncologist. 2012;17:279–287.
  • Di Martino MT, Arbitrio M, Guzzi PH, et al. A peroxisome proliferator-activated receptor gamma (PPARG) polymorphism is associated with zoledronic acid-related osteonecrosis of the jaw in multiple myeloma patients: analysis by DMET microarray profiling. Br J Haematol. 2011;154:529–533.
  • La Ferla F, Paolicchi E, Crea F, et al. An aromatase polymorphism (g.132810C>T) predicts risk of bisphosphonate-related osteonecrosis of the jaw. Biomark Med. 2012;6:201–209.
  • Katz J, Gong Y, Salmasinia D, et al. Genetic polymorphisms and other risk factors associated with bisphosphonate induced osteonecrosis of the jaw. Int J Oral Maxillofac Surg. 2011;40:605–611.
  • Marini F, Tonelli P, Cavalli L, et al. Pharmacogenetics of bisphosphonate-associated osteonecrosis of the jaw. Front Biosci (Elite Ed). 2011;3:364–370.
  • Malan J, Ettinger K, Naumann E, et al. The relationship of denosumab pharmacology and osteonecrosis of the jaws. Oral Surg Oral Med Oral Pathol Oral Radiol. 2012;114:671–676.
  • Sivolella S, Lumachi F, Stellini E, et al. Denosumab and anti-angiogenetic drug-related osteonecrosis of the jaw: an uncommon but potentially severe disease. Anticancer Res. 2013;33:1793–1797.
  • Zhang X, Hamadeh IS, Song S, et al. Osteonecrosis of the jaw in the United States Food and Drug Administration’s Adverse Event Reporting System (FAERS). J Bone Miner Res. 2015;3:336–340.
  • Ramirez L, Lopez-Pintor RM, Casanas E, et al. New non-bisphosphonate drugs that produce osteonecrosis of the jaws. Oral Health Prev Dent. 2015;13(5):385–393.
  • Papapoulos S, Lippuner K, Roux C, et al. The effect of 8 or 5 years of denosumab treatment in postmenopausal women with osteoporosis: results from the FREEDOM Extension study. Osteoporos Int. 2015;26:2773–2783.
  • Shane E, Burr D, Abrahamsen B, et al. Atypical subtrochanteric and diaphyseal femoral fractures: second report of a task force of the American society for bone and mineral research. J Bone Miner Res. 2014;29:1–23.
  • Schilcher J, Aspenberg P. Atypical fracture of the femur in a patient using denosumab - a case report. Acta Orthop. 2014;85:6–7.
  • Odvina CV, Levy S, Rao S, et al. Unusual mid-shaft fractures during long-term bisphosphonate therapy. Clin Endocrinol (Oxf). 2010;72:161–168.
  • Marcano A, Taormina D, Egol KA, et al. Are race and sex associated with the occurrence of atypical femoral fractures? Clin Orthop Relat Res. 2014;472:1020–1027.
  • Sasaki S, Miyakoshi N, Hongo M, et al. Low-energy diaphyseal femoral fractures associated with bisphosphonate use and severe curved femur: a case series. J Bone Miner Metab. 2012;30:561–567.
  • Taormina DP, Marcano AI, Karia R, et al. Symptomatic atypical femoral fractures are related to underlying hip geometry. Bone. 2014;63:1–6.
  • Hagen JE, Miller AN, Ott SM, et al. Association of atypical femoral fractures with bisphosphonate use by patients with varus hip geometry. J Bone Joint Surg Am. 2014;96:1905–1909.
  • Sutton RA, Mumm S, Coburn SP, et al. “Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia. J Bone Miner Res. 2012;27:987–994.
  • Perez-Nunez I, Perez-Castrillon JL, Zarrabeitia MT, et al. Exon array analysis reveals genetic heterogeneity in atypical femoral fractures. A pilot study. Mol Cell Biochem. 2015;409:45–50.
  • Bhattacharya T, Jhia S, et al. Absence of hypophosphatasia mutations in atypical fracturas. J Bone Miner Res. 2015;30(suppl):S297(abstract).
  • Estrada K, Styrkarsdottir U, Evangelou E, et al. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet. 2012;44:491–501.
  • Zheng HF, Forgetta V, Hsu YH, et al. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature. 2015;526:112–117.

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