Clinical impact of recent genetic discoveries in osteoporosis

Application of Clinical Genetics

Volumn 6, Issue , 2013, Pages 75-85

  Mitchell, Braxton D ^a   Streeten, Elizabeth A ^a  

^a UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

Author keywords

Bone mineral density; Fracture; Genetics; Genome wide association studies; Osteoporosis; Prediction

Indexed keywords

ALDEHYDE DEHYDROGENASE; ALKALINE PHOSPHATASE BONE ISOENZYME; AMINO TERMINAL TELOPEPTIDE; BETA CATENIN; CARBOXY TERMINAL TELOPEPTIDE; OSTEOCALCIN; OSTEOCLAST DIFFERENTIATION FACTOR; OSTEOPROTEGERIN; PARATHYROID HORMONE[1-34]; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B; SCLEROSTIN; WNT PROTEIN;

ALDH7A GENE; BONE DENSITY; BONE REMODELING; COL1A1 GENE; DUAL ENERGY X RAY ABSORPTIOMETRY; EPIGENETICS; FALL RISK; FRAGILITY FRACTURE; GENE; GENE EXPRESSION REGULATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HIP FRACTURE; HUMAN; MOLECULAR GENETICS; NONHUMAN; OPG GENE; OSTEOPOROSIS; PATHOPHYSIOLOGY; POSTMENOPAUSE OSTEOPOROSIS; PREDICTION; PROTEIN EXPRESSION; RANK GENE; RANKL GENE; REVIEW; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSLATIONAL RESEARCH; UNSPECIFIED SIDE EFFECT;

EID: 84885028085     PISSN: None     EISSN: 1178704X     Source Type: Journal    
DOI: 10.2147/TACG.S52047     Document Type: Review

References (76)

1. United States Bone and Joint Initiative. The burden of musculoskel-etal diseases in the United States. 2011. Available from: http://www.boneandjointburden.org/. Accessed September 4, 2013.
2. Nguyen ND, Ahlborg HG, Center JR, Eisman JA, Nguyen TV. Residual lifetime risk of fractures in women and men. J Bone Miner Res. 2007;22:781-788.
3. Burge R, Dawson-Hughes B, Solomon DH, Wong JB, King A, Tosteson A. Incidence and economic burden of osteoporosis-related fractures in the United States, 2005-2025. J Bone Miner Res. 2007;22:465-475.
4. NIH Consensus Development Panel. Osteoporosis prevention, diagnosis, and therapy. JAMA. 2001;285:785-795.
5. Peacock M, Turner CH, Econs MJ, Foroud T. Genetics of osteoporosis. Endocr Rev. 2002;23:303-326.
6. Ng MY, Sham PC, Paterson AD, Chan V, Kung AW. Effect of environmental factors and gender on the heritability of bone mineral density and bone size. Ann Hum Genet. 2006;70:428-438.
7. Chesnut CH 3rd. Is osteoporosis a pediatric disease? Peak bone mass attainment in the adolescent female. Public Health Rep. 1989;Suppl 104: 50-54.
8. Watts NB. Clinical utility of biochemical markers of bone remodeling. Clin Chem. 1999;45:1359-1368.
9. Tosteson AN, Gottlieb DJ, Radley DC, Fisher ES, Melton LJ 3rd. Excess mortality following hip fracture: the role of underlying health status. Osteoporos Int. 2007;18:1463-1472.
10. Haentjens P, Magaziner J, Colon-Emeric CS, et al. Meta-analysis: excess mortality after hip fracture among older women and men. Ann Intern Med. 2010;152:380-390.
11. Sterling RS. Gender and race/ethnicity differences in hip fracture incidence, morbidity, mortality, and function. Clin Orthop Relat Res. 2011;469:1913-1918.
12. Pongchaiyakul C, Nguyen ND, Jones G, Center JR, Eisman JA, Nguyen T V. Asymptomatic vertebral deformity as a major risk factor for subsequent fractures and mortality: a long-term prospective study. J Bone Miner Res. 2005;20:1349-1355.
13. Hallberg I, Rosenqvist AM, Kartous L, Löfman O, Wahlström O, Toss G. Health-related quality of life after osteoporotic fractures. Osteoporos Int. 2004;15:834-841.
14. Adachi JD, Adami S, Gehlbach S, et al; GLOW Investigators. Impact of prevalent fractures on quality of life: baseline results from the global longitudinal study of osteoporosis in women. Mayo Clin Proc. 2010;85: 806-813.
15. Solimeo SL, Silverman SL, Calderon AD, Nguyen A, Gold DT. Measuring health-related quality of life (HRQOL) in osteoporotic males using the male OPAQ. Osteoporos Int. 2012;23:841-852.
16. Black DM, Delmas PD, Eastell R, et al; HORIZON Pivotal Fracture Trial. Once-yearly zoledronic acid for treatment of postmenopausal osteoporosis. N Engl J Med. 2007;356:1809-1822.
17. Lyles K W, Colon-Emeric CS, Magaziner JS, et al; HORIZON Recurrent Fracture Trial. Zoledronic acid and clinical fractures and mortality after hip fracture. N Engl J Med. 2007;357:1799-1809.
18. Bono CM, Einhorn TA. Overview of osteoporosis: pathophysiology and determinants of bone strength. Eur Spine J. 2003;12 Suppl 2: S90-S96.
19. Bouxsein ML, Seeman E. Quantifying the material and structural determinants of bone strength. Best Pract Res Clin Rheumatol. 2009;23: 741-753.
20. World Health Organization. Assessment of fracture risk and its application to screening for postmenopausal osteoporosis. Report of a WHO Study Group. World Health Organ Tech Rep Ser. 1994;843:1-129.
21. Martinez-Morillo M, Grados D, Holgado S. Premenopausal osteoporosis: how to treat? Reumatol Clin. 2012;8:93-97.
22. National Osteoporosis Foundation. Clinician's Guide to Prevention and Treatment of Osteoporosis. Washington, DC: National Osteoporosis Foundation; 2008.
23. Marini F, Brandi ML. Pharmacogenetics of osteoporosis: future perspectives. Calcif Tissue Int. 2009;84:337-347.
24. Marini F, Brandi ML. Pharmacogenetics of osteoporosis: what is the evidence? Curr Osteoporos Rep. 2012;10:221-227.
25. Compston J. Clinical and therapeutic aspects of osteoporosis. Eur J Radiol. 2009;71:388-391.
26. King AB, Fiorentino DM. Medicare payment cuts for osteoporosis testing reduced use despite tests' benefit in reducing fractures. Health Aff (Millwood). 2011;30:2362-2370.
27. O'Malley CD, Johnston SS, Lenhart G, Cherkowski G, Palmer L, Morgan SL. Trends in dual-energy x-ray absorptiometry in the United States, 2000-2009. J Clin Densitom. 2011;14:100-107.
28. Tanner SB. Dual-energy x-ray absorptiometry in clinical practice: new guidelines and concerns. Curr Opin Rheumatol. 2011;23:385-388.
29. Marshall D, Johnell O, Wedel H. Meta-analysis of how well measures of bone mineral density predict occurrence of osteoporotic fractures. BMJ. 1996;312:1254-1259.
30. 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.
31. Jones G, Nguyen T, Sambrook P, Kelly PJ, Eisman JA. Progressive loss of bone in the femoral neck in elderly people: longitudinal fndings from the Dubbo osteoporosis epidemiology study. BMJ. 1994;309:691-695.
32. Smith JA, Vento JA, Spencer R P, Tendler BE. Aortic calcification contributing to bone densitometry measurement. J Clin Densitom. 1999;2:181-183.
33. Nguyen ND, Eisman JA, Center JR, Nguyen T V. Risk factors for fracture in nonosteoporotic men and women. J Clin Endocrinol Metab. 2007;92:955-962.
34. Nishiyama KK, Macdonald HM, Hanley DA, Boyd SK. Women with previous fragility fractures can be classifed based on bone microarchitecture and finite element analysis measured with HR-pQCT. Osteoporos Int. 2013;24:1733-1740.
35. Dawson-Hughes B, Looker AC, Tosteson AN, Johansson H, Kanis JA, Melton LJ 3rd. The potential impact of the National Osteoporosis Foundation guidance on treatment eligibility in the USA: an update in NHANES 2005-2008. Osteoporos Int. 2012;23:811-820.
36. Samelson EJ, Hannan MT. Epidemiology of osteoporosis. Curr Rheumatol Rep. 2006;8:76-83.
37. Kiel D P, Rosen CJ, Dempster D. Age-Related Bone Loss. Chapter 20. John Wiley & Sons Inc; 2009.
38. Lane NE. Epidemiology, etiology, and diagnosis of osteoporosis. Am J Obstet Gynecol. 2006;194:S3-S11.
39. Mitchell BD, Kammerer CM, Schneider JL, Perez R, Bauer RL. Genetic and environmental determinants of bone mineral density in Mexican Americans: results from the San Antonio Family Osteoporosis Study. Bone. 2003;33:839-846.
40. Faulkner KG, Wacker WK, Barden HS, et al. Femur strength index predicts hip fracture independent of bone density and hip axis length. Osteoporos Int. 2006;17:593-599.
41. Pulkkinen P, Jämsä T, Lochmüller EM, Kuhn V, Nieminen MT, Eckstein F. Experimental hip fracture load can be predicted from plain radiography by combined analysis of trabecular bone structure and bone geometry. Osteoporos Int. 2008;19:547-558.
42. Michaëlsson K, Melhus H, Ferm H, Ahlbom A, Pedersen NL. Genetic liability to fractures in the elderly. Arch Intern Med. 2005;165: 1825-1830.
43. Deng H W, Chen WM, Recker S, et al. Genetic determination of Colles' fracture and differential bone mass in women with and without Colles' fracture. J Bone Miner Res. 2000;15:1243-1252.
44. Andrew T, Antioniades L, Scurrah KJ, Macgregor AJ, Spector TD. Risk of wrist fracture in women is heritable and is influenced by genes that are largely independent of those influencing BMD. J Bone Miner Res. 2005;20:67-74.
45. Seeman E, Hopper JL, Bach LA, et al. Reduced bone mass in daughters of women with osteoporosis. N Engl J Med. 1989;320:554-558.
46. Hui SL, Koller DL, Foroud TM, Econs MJ, Johnston CC, Peacock M. Heritability of changes in bone size and bone mass with age in premeno-pausal white sisters. J Bone Miner Res. 2006;21:1121-1125.
47. Shaffer JR, Kammerer CM, Dressen AS, Bruder JM, Bauer RL, Mitchell BD. Rate of bone loss is greater in young Mexican American men than women: the San Antonio Family Osteoporosis study. Bone. 2010;47:49-54.
48. Brown LB, Streeten EA, Shapiro JR, et al. Genetic and environmental influences on bone mineral density in pre- and post-menopausal women. Osteoporos Int. 2005;16:1849-1856.
49. Kelly PJ, Nguyen T, Hopper J, Pocock N, Sambrook P, Eisman J. Changes in axial bone density with age: a twin study. J Bone Miner Res. 1993;8:11-17.
50. Christian JC, Yu PL, Slemenda C W, Johnston CC Jr. Heritability of bone mass: a longitudinal study in aging male twins. Am J Hum Genet. 1989;44:429-433.
51. Shaffer JR, Kammerer CM, Bruder J, et al. Five-year change in bone mineral density is heritable in Mexican Americans: The San Antonio Family Osteoporosis Study. J Bone Miner Res. 2005;20 Suppl 1:S67.
52. Makovey J, Nguyen T V, Naganathan V, Wark JD, Sambrook PN. Genetic effects on bone loss in peri- and postmenopausal women: a longitudinal twin study. J Bone Miner Res. 2007;22:1773-1780.
53. Mitchell BD, Yerges-Armstrong LM. The genetics of bone loss: challenges and prospects. J Clin Endocrinol Metab. 2011;96:1258-1268.
54. 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.
55. Richards JB, Zheng HF, Spector TD. Genetics of osteoporosis from genome-wide association studies: advances and challenges. Nat Rev Genet. 2012;13:576-588.
56. Gong Y, Slee RB, Fukai N, et al; Osteoporosis-Pseudoglioma Syndrome Collaborative Group. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 2001;107:513-523.
57. Clarke B. Normal bone anatomy and physiology. Clin J Am Soc Nephrol. 2008;3 Suppl 3:S131-S139.
58. Guo Y, Tan LJ, Lei SF, et al. Genome-wide association study identifies ALDH7a1 as a novel susceptibility gene for osteoporosis. PLoS Genet. 2010;6:e1000806.
59. Giuliani N, Girasole G, Vescovi P P, Passeri G, Pedrazzoni M. Ethanol and acetaldehyde inhibit the formation of early osteoblast progenitors in murine and human bone marrow cultures. Alcohol Clin Exp Res. 1999;23:381-385.
60. Ralston SH, Uitterlinden AG. Genetics of osteoporosis. Endocr Rev. 2010;31:629-662.
61. Li WF, Hou SX, Yu B, Li MM, Férec C, Chen JM. Genetics of osteoporosis: accelerating pace in gene identification and validation. Hum Genet. 2010;127:249-285.
62. Farber CR, Lusis AJ. Future of osteoporosis genetics: enhancing genome-wide association studies. J Bone Miner Res. 2009;24:1937-1942.
63. Duncan EL, Brown MA. Genetic determinants of bone density and fracture risk - state of the art and future directions. J Clin Endocrinol Metab. 2010;95:2576-2587.
64. 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.
65. Wainwright SA, Marshall LM, Ensrud KE, et al; Study of Osteoporotic Fractures Research Group. Hip fracture in women without osteoporosis. J Clin Endocrinol Metab. 2005;90:2787-2793.
66. Nguyen ND, Frost SA, Center JR, Eisman JA, Nguyen T V. Development of a nomogram for individualizing hip fracture risk in men and women. Osteoporos Int. 2007;18:1109-1117.
67. Nguyen ND, Frost SA, Center JR, Eisman JA, Nguyen T V. Development of prognostic nomograms for individualizing 5-year and 10-year fracture risks. Osteoporos Int. 2008;19:1431-1444.
68. Tran BN, Nguyen ND, Center JR, Eisman JA, Nguyen T V. Enhancement of absolute fracture risk prognosis with genetic marker: the collagen 1 alpha 1 gene. Calcif Tissue Int. 2009;85:379-388.
69. Nguyen T V, Eisman JA. Genetics and the individualized prediction of fracture. Curr Osteoporos Rep. 2012;10:236-244.
70. Hsu YH, Zillikens MC, Wilson SG, et al. An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility loci for osteoporosis-related traits. PLoS Genet. 2010;6:e1000977.
71. Lui JC, Nilsson O, Chan Y, et al. Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height. Hum Mol Genet. 2012;21:5193-5201.
72. Bone H. Future directions in osteoporosis therapeutics. Endocrinol Metab Clin North Am. 2012;41:655-661.
73. Delgado-Calle J, Garmilla P, Riancho JA. Do epigenetic marks govern bone mass and homeostasis? Curr Genomics. 2012;13:252-263.
74. Delgado-Calle J, Sañudo C, Fernández AF, García-Renedo R, Fraga MF, Riancho JA. Role of DNA methylation in the regulation of the RANKL-OPG system in human bone. Epigenetics. 2012;7:83-91.
75. La Thangue NB. Histone deacetylase inhibitors and cancer therapy. J Chemother. 2004;16 Suppl 4:64-67.
76. Santos F P, Kantarjian H, Garcia-Manero G, Issa J P, Ravandi F. Decitabine in the treatment of myelodysplastic syndromes. Expert Rev Anticancer Ther. 2010;10:9-22.