129
Views
0
CrossRef citations to date
0
Altmetric
Original Research

PFN1 Gene Polymorphisms and the Bone Mineral Density Response to Alendronate Therapy in Postmenopausal Chinese Women with Low Bone Mass

, , , , &
Pages 1669-1678 | Published online: 23 Dec 2021

References

  • Seeman E, Bianchi G, Khosla S, Kanis JA, Orwoll E. Bone fragility in men–where are we? Osteoporos Int. 2006;17(11):1577–1583. doi:10.1007/s00198-006-0160-8
  • Pocock NA, Eisman JA, Hopper JL, et al. Genetic determinants of bone mass in adults. A twin study. J Clin Invest. 1987;80(3):706–710. doi:10.1172/JCI113125
  • Nguyen TV, Blangero J, Eisman JA. Genetic epidemiological approaches to the search for osteoporosis genes. J Bone Miner Res. 2000;15(3):392–401. doi:10.1359/jbmr.2000.15.3.392
  • Dawson-Hughes B, Looker AC, Tosteson AN, et al. The potential impact of the national osteoporosis foundation guidance on treatment eligibility in the USA: an update in NHANES 2005–2008. Osteoporos Int. 2012;23(3):811–820. doi:10.1007/s00198-011-1694-y
  • Xia WB, He SL, Xu L, et al. Rapidly increasing rates of hip fracture in Beijing, China. J Bone Miner Res. 2012;27(1):125–129. doi:10.1002/jbmr.519
  • Gao C, Xu Y, Li L, et al. Prevalence of osteoporotic vertebral fracture among community-dwelling elderly in Shanghai. Chin Med J. 2019;132(14):1749–1751. doi:10.1097/CM9.0000000000000332
  • Kanis JA, Burlet N, Cooper C, et al. European guidance for the diagnosis and management of osteoporosis in postmenopausal women. Osteoporos Int. 2008;19(4):399–428. doi:10.1007/s00198-008-0560-z
  • Watts NB, Adler RA, Bilezikian JP, et al. Osteoporosis in men: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2012;97(6):1802–1822. doi:10.1210/jc.2011-3045
  • Ogawa S, Ouchi Y. [Therapeutic purpose and treatment guideline of osteoporosis]. Clin Calcium. 2012;22(6):885–889. Japanese.
  • Orimo H. [Bone and calcium update; diagnosis and therapy of metabolic bone disease update. Guideline for prevention and treatment of osteoporosis update]. Clin Calcium. 2011;21(12):123–143. Japanese.
  • Dawson-Hughes B. A revised clinician’s guide to the prevention and treatment of osteoporosis. J Clin Endocrinol Metab. 2008;93(7):2463–2465. doi:10.1210/jc.2008-0926
  • Delmas PD. The use of bisphosphonates in the treatment of osteoporosis. Curr Opin Rheumatol. 2005;17(4):462–466. doi:10.1097/01.bor.0000163448.51661.87
  • Cummings SR, Black DM, Thompson DE, et al. Effect of alendronate on risk of fracture in women with low bone density but without vertebral fractures: results from the Fracture Intervention Trial. JAMA. 1998;280(24):2077–2082. doi:10.1001/jama.280.24.2077
  • Quandt SA, Thompson DE, Schneider DL, Nevitt MC, Black DM. Effect of alendronate on vertebral fracture risk in women with bone mineral density T scores of-1.6 to −2.5 at the femoral neck: the Fracture Intervention Trial. Mayo Clin Proc. 2005;80(3):343–349. doi:10.4065/80.3.343
  • Eastell R, Barton I, Hannon RA, et al. Relationship of early changes in bone resorption to the reduction in fracture risk with risedronate. J Bone Miner Res. 2003;18(6):1051–1056. doi:10.1359/jbmr.2003.18.6.1051
  • Marini F, Brandi ML. Pharmacogenetics of osteoporosis: what is the evidence? Curr Osteoporos Rep. 2012;10(3):221–227. doi:10.1007/s11914-012-0110-7
  • Eisman JA. Genetics of osteoporosis. Endocr Rev. 1999;20(6):788–804. doi:10.1210/edrv.20.6.0384
  • Qureshi AM, Herd RJ, Blake GM, Fogelman I, Ralston SH. COLIA1 Sp1 polymorphism predicts response of femoral neck bone density to cyclical etidronate therapy. Calcif Tissue Int. 2002;70(3):158–163. doi:10.1007/s00223-001-1035-9
  • Palomba S, Numis FG, Mossetti G, et al. Effectiveness of alendronate treatment in postmenopausal women with osteoporosis: relationship with BsmI vitamin D receptor genotypes. Clin Endocrinol (Oxf). 2003;58(3):365–371. doi:10.1046/j.1365-2265.2003.01724.x
  • Palomba S, Orio F Jr, Russo T, et al. BsmI vitamin D receptor genotypes influence the efficacy of antiresorptive treatments in postmenopausal osteoporotic women. A 1-year multicenter, randomized and controlled trial. Osteoporos Int. 2005;16(8):943–952. doi:10.1007/s00198-004-1800-5
  • Eisman JA. Pharmacogenetics of the vitamin D receptor and osteoporosis. Drug Metab Dispos. 2001;29(4 Pt 2):505–512.
  • Wang C, Zheng H, He JW, et al. Genetic polymorphisms in the mevalonate pathway affect the therapeutic response to alendronate treatment in postmenopausal Chinese women with low bone mineral density. Pharmacogenomics J. 2015;15(2):158–164. doi:10.1038/tpj.2014.52
  • Zheng H, Wang C, He JW, Fu WZ, Zhang ZL. OPG, RANKL, and RANK gene polymorphisms and the bone mineral density response to alendronate therapy in postmenopausal Chinese women with osteoporosis or osteopenia. Pharmacogenet Genomics. 2016;26(1):12–19. doi:10.1097/FPC.0000000000000181
  • Wang WJ, Fu WZ, He JW, Wang C, Zhang ZL. Association between SOST gene polymorphisms and response to alendronate treatment in postmenopausal Chinese women with low bone mineral density. Pharmacogenomics J. 2019;19(5):490–498. doi:10.1038/s41397-018-0059-8
  • Witke W. The role of profilin complexes in cell motility and other cellular processes. Trends Cell Biol. 2004;14(8):461–469. doi:10.1016/j.tcb.2004.07.003
  • Ding Z, Bae YH, Roy P. Molecular insights on context-specific role of profilin-1 in cell migration. Cell Adh Migr. 2012;6(5):442–449. doi:10.4161/cam.21832
  • Witke W, Podtelejnikov AV, Di Nardo A, et al. In mouse brain profilin I and profilin II associate with regulators of the endocytic pathway and actin assembly. EMBO J. 1998;17(4):967–976. doi:10.1093/emboj/17.4.967
  • Hein MY, Hubner NC, Poser I, et al. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. Cell. 2015;163(3):712–723. doi:10.1016/j.cell.2015.09.053
  • Ertych N, Stolz A, Valerius O, Braus GH, Bastians H. CHK2-BRCA1 tumor-suppressor axis restrains oncogenic Aurora-A kinase to ensure proper mitotic microtubule assembly. Proc Natl Acad Sci U S A. 2016;113(7):1817–1822. doi:10.1073/pnas.1525129113
  • Zaidi AH, Manna SK. Profilin-PTEN interaction suppresses NF-κB activation via inhibition of IKK phosphorylation. Biochem J. 2016;473(7):859–872. doi:10.1042/BJ20150624
  • Lu H, Shamanna RA, de Freitas JK, et al. Cell cycle-dependent phosphorylation regulates RECQL4 pathway choice and ubiquitination in DNA double-strand break repair. Nat Commun. 2017;8(1):2039. doi:10.1038/s41467-017-02146-3
  • Wei Z, Li S, Tao X, et al. Mutations in profilin 1 cause early-onset Paget’s disease of bone with giant cell tumors. J Bone Miner Res. 2021;36(6):1088–1103. doi:10.1002/jbmr.4275
  • Scotto Di Carlo F, Pazzaglia L, Esposito T, Gianfrancesco F. The loss of profilin 1 causes early onset Paget’s disease of bone. Journal of Bone and Mineral Research: The Official Journal of the American Society for Bone and Mineral Research. 2020;35(8):1387–1398. doi:10.1002/jbmr.3964
  • Merlotti D, Materozzi M, Bianciardi S, et al. Mutation of PFN1 gene in an early onset, polyostotic Paget-like disease. J Clin Endocrinol Metab. 2020;105(8):2553–2565. doi:10.1210/clinem/dgaa252
  • Shirakawa J, Kajikawa S, Böttcher RT, et al. Profilin 1 negatively regulates osteoclast migration in postnatal skeletal growth, remodeling, and homeostasis in mice. JBMR Plus. 2019;3(6):e10130. doi:10.1002/jbm4.10130
  • Camacho PM, Petak SM, Binkley N, et al. American Association of Clinical Endocrinologists/American College of Endocrinology Clinical Practice Guidelines for the diagnosis and treatment of postmenopausal osteoporosis—2020 update executive summary. Endocr Pract. 2020;26(5):564–570. doi:10.4158/GL-2020-0524
  • Gao G, Zhang ZL, Zhang H, et al. Hip axis length changes in 10,554 males and females and the association with femoral neck fracture. J Clin Densitom. 2008;11(3):360–366. doi:10.1016/j.jocd.2008.04.005
  • Fisher JE, Rogers MJ, Halasy JM, et al. Alendronate mechanism of action: geranylgeraniol, an intermediate in the mevalonate pathway, prevents inhibition of osteoclast formation, bone resorption, and kinase activation in vitro. Proc Natl Acad Sci U S A. 1999;96(1):133–138. doi:10.1073/pnas.96.1.133
  • 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(9):2609–2615. doi:10.1185/03007990802352894
  • Chubachi S, Nakamura H, Sasaki M, et al. Polymorphism of LRP5 gene and emphysema severity are associated with osteoporosis in Japanese patients with or at risk for COPD. Respirology. 2015;20(2):286–295. doi:10.1111/resp.12429
  • Liu Y, Liu H, Li M, et al. Association of farnesyl diphosphate synthase polymorphisms and response to alendronate treatment in Chinese postmenopausal women with osteoporosis. Chin Med J. 2014;127(4):662–668.
  • Han LW, Ma DD, Xu XJ, et al. Association between geranylgeranyl pyrophosphate synthase gene polymorphisms and bone phenotypes and response to alendronate treatment in Chinese osteoporotic women. Chin Med Sci J. 2016;31(1):8–16. doi:10.1016/S1001-9294(16)30016-5
  • Olmos JM, Zarrabeitia MT, Hernández JL, et al. Common allelic variants of the farnesyl diphosphate synthase gene influence the response of osteoporotic women to bisphosphonates. Pharmacogenomics J. 2012;12(3):227–232. doi:10.1038/tpj.2010.88
  • Lima CA, Javorski NR, Souza AP, et al. Polymorphisms in key bone modulator cytokines genes influence bisphosphonates therapy in postmenopausal women. Inflammopharmacology. 2017;25(2):191–201. doi:10.1007/s10787-017-0322-7
  • Coffin JD, Homer-Bouthiette C, Hurley MM. Fibroblast growth factor 2 and its receptors in bone biology and disease. J Endocr Soc. 2018;2(7):657–671. doi:10.1210/js.2018-00105
  • Boopathy S, Silvas TV, Tischbein M, et al. Structural basis for mutation-induced destabilization of profilin 1 in ALS. Proc Natl Acad Sci U S A. 2015;112(26):7984–7989. doi:10.1073/pnas.1424108112
  • Witke W, Sutherland JD, Sharpe A, Arai M, Kwiatkowski DJ. Profilin I is essential for cell survival and cell division in early mouse development. Proc Natl Acad Sci U S A. 2001;98(7):3832–3836. doi:10.1073/pnas.051515498
  • Zheng J, Lu Z, Kocabas F, et al. Profilin 1 is essential for retention and metabolism of mouse hematopoietic stem cells in bone marrow. Blood. 2014;123(7):992–1001. doi:10.1182/blood-2013-04-498469
  • Ding Z, Lambrechts A, Parepally M, Roy P. Silencing profilin-1 inhibits endothelial cell proliferation, migration and cord morphogenesis. J Cell Sci. 2006;119(Pt 19):4127–4137. doi:10.1242/jcs.03178
  • Rust MB, Kullmann JA, Witke W. Role of the actin-binding protein profilin1 in radial migration and glial cell adhesion of granule neurons in the cerebellum. Cell Adh Migr. 2012;6(1):13–17. doi:10.4161/cam.19845
  • Zoidakis J, Makridakis M, Zerefos PG, et al. Profilin 1 is a potential biomarker for bladder cancer aggressiveness. Mol Cell Proteomics. 2012;11(4):M111.009449. doi:10.1074/mcp.M111.009449
  • Lin W, Ezura Y, Izu Y, et al. Profilin expression is regulated by Bone Morphogenetic Protein (BMP) in osteoblastic cells. J Cell Biochem. 2016;117(3):621–628. doi:10.1002/jcb.25310
  • Lin W, Izu Y, Smriti A, et al. Profilin1 is expressed in osteocytes and regulates cell shape and migration. J Cell Physiol. 2018;233(1):259–268. doi:10.1002/jcp.25872
  • Lewiecki EM, Gordon CM, Baim S, et al. International society for clinical densitometry 2007 adult and pediatric official positions. Bone. 2008;43(6):1115–1121. doi:10.1016/j.bone.2008.08.106