Genome-wide approaches for identifying genetic risk factors for osteoporosis

Genome Medicine

Volumn 5, Issue 5, 2013, Pages

  Wu, Shuyan ^a   Liu, Yongjun ^b   Zhang, Lei ^a,b   Han, Yingying ^a   Lin, Yong ^a   Deng, Hong Wen ^a,b  

^a UNIVERSITY OF SHANGHAI FOR SCIENCE AND TECHNOLOGY   (China)

^b TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; DNA; OSTEOCLAST DIFFERENTIATION FACTOR; OSTEOPROTEGERIN; RECEPTOR ACTIVATOR OF NUCLEAR FACTOR KAPPA B; SORTILIN; TRANSFORMING GROWTH FACTOR BETA;

BONE DENSITY; CELL DIFFERENTIATION; CELL PROLIFERATION; CHROMOSOME 11Q; CHROMOSOME 15Q; CHROMOSOME 20P; CHROMOSOME 7P; CHROMOSOME XQ; DNA METHYLATION; ENCHONDRAL OSSIFICATION; EPIGENETICS; FAT MASS; GENE IDENTIFICATION; GENE MAPPING; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC PROCEDURES; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME WIDE LINKAGE STUDY; HISTONE ACETYLATION; HISTONE METHYLATION; HUMAN; LEAN BODY WEIGHT; MONOCYTE; OSTEOCYTE; OSTEOPOROSIS; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; REVIEW; RNA INTERFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; UPREGULATION; WNT SIGNALING PATHWAY; Y CHROMOSOME;

EID: 84877887869     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/gm448     Document Type: Review

References (109)

1. Mitchell BD, Yerges-Armstrong LM. The genetics of bone loss: challenges and prospects. J Clin Endocrinol Metab 2011, 96:1258-1268. 10.1210/jc.2010-2865, 3085199, 21346070.
2. Riancho JA, Hernandez JL. Pharmacogenomics of osteoporosis: a pathway approach. Pharmacogenomics 2011, 13:815-829.
3. Daroszewska A. Prevention and treatment of osteoporosis in women: an update. Obst Gyn Reproduct Med 2012, 22:162-169.
4. Biino G, Casula L, de Terlizzi F, Adamo M, Vaccargiu S, Francavilla M, Loi D, Casti A, Atzori M, Pirastu M. Epidemiology of osteoporosis in an isolated Sardinian population by using quantitative ultrasound. Am J Epidemiol 2011, 174:432-439. 10.1093/aje/kwr106, 21709133.
5. Duncan EL, Brown MA. Clinical review 2: Genetic determinants of bone density and fracture risk--state of the art and future directions. J Clin Endocrinol Metab 2010, 95:2576-2587. 10.1210/jc.2009-2406, 20375209.
6. Duncan EL, Brown MA. Mapping genes for osteoporosis--old dogs and new tricks. Bone 2010, 46:1219-1225. 10.1016/j.bone.2009.12.035, 20060943.
7. Cummings SR, Cosman F, Eastell R, Reid IR, Mehta M, Lewiecki EM. Goal-directed treatment of osteoporosis. J Bone Miner Res 2013, 28:433-438. 10.1002/jbmr.1854, 23300146.
8. Lee JH, Kim BG, Ahn JM, Park HJ, Park SK, Yoo JS, Yates JR, Cho JY. Role of PI3K on the regulation of BMP2-induced beta-Catenin activation in human bone marrow stem cells. Bone 2010, 46:1522-1532. 10.1016/j.bone.2010.02.013, 20167300.
9. Zhao L, Cui B, Liu JM, Zhang MJ, Zhao HY, Sun LH, Tao B, Zhang LZ, Ning G. Interactions of osteoporosis candidate genes for age at menarche, age at natural menopause, and maximal height in Han Chinese women. Menopause 2011, 18:1018-1025. 10.1097/gme.0b013e318213545a, 21646926.
10. Xu XH, Dong SS, Guo Y, Yang TL, Lei SF, Papasian CJ, Zhao M, Deng HW. Molecular genetic studies of gene identification for osteoporosis: the 2009 update. Endocr Rev 2010, 31:447-505. 10.1210/er.2009-0032, 3365849, 20357209.
11. Karasik D, Hsu YH, Zhou Y, Cupples LA, Kiel DP, Demissie S. Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study. J Bone Miner Res 2010, 25:1555-1563. 10.1002/jbmr.38, 3153998, 20200953.
12. Cheung CL, Xiao SM, Kung AW. Genetic epidemiology of age-related osteoporosis and its clinical applications. Nat Rev Rheumatol 2010, 6:507-517. 10.1038/nrrheum.2010.106, 20683440.
13. Guan Y, Ackert-Bicknell CL, Kell B, Troyanskaya OG, Hibbs MA. Functional genomics complements quantitative genetics in identifying disease-gene associations. PLoS Comput Biol 2010, 6:e1000991. 10.1371/journal.pcbi.1000991, 2978695, 21085640.
14. Qiu C, Papasian CJ, Deng HW, Shen H. Genetics of osteoporotic fracture. Orth Res Rev 2011, 3:11-21.
15. Ralston SH. Genetics of osteoporosis. Ann N Y Acad Sci 2010, 1192:181-189. 10.1111/j.1749-6632.2009.05317.x, 20392235.
16. Styrkarsdottir U, Cazier JB, Kong A, Rolfsson O, Larsen H, Bjarnadottir E, Johannsdottir VD, Sigurdardottir MS, Bagger Y, Christiansen C, Reynisdottir I, Grant SF, Jonasson K, Frigge ML, Gulcher JR, Sigurdsson G, Stefansson K. Linkage of osteoporosis to chromosome 20p12 and association to BMP2. PLoS Biol 2003, 1:e69. 270020, 14691541.
17. Kammerer CM, Schneider JL, Cole SA, Hixson JE, Samollow PB, O'Connell JR, Perez R, Dyer TD, Almasy L, Blangero J, Bauer RL, Mitchell BD. Quantitative trait loci on chromosomes 2p, 4p, and 13q influence bone mineral density of the forearm and hip in Mexican Americans. J Bone Miner Res 2003, 18:2245-2252. 10.1359/jbmr.2003.18.12.2245, 14672361.
18. Kuipers AL, Gundberg C, Kammerer CM, Dressen AS, Nestlerode CS, Patrick AL, Wheeler VW, Bunker CH, Newman AB, Zmuda JM. Genetic analysis of serum osteocalcin and bone mineral in multigenerational Afro-Caribbean families. Osteoporos Int 2012, 23:1521-1531. 10.1007/s00198-011-1763-2, 21935688.
19. Wang XL, Deng FY, Tan LJ, Deng HY, Liu YZ, Papasian CJ, Recker RR, Deng HW. Bivariate whole genome linkage analyses for total body lean mass and BMD. J Bone Miner Res 2008, 23:447-452. 2669157, 17967140.
20. Lei S, Deng F, Xiao P, Zhong K, Deng H, Recker RR, Deng H. Bivariate whole-genome linkage scan for bone geometry and total body fat mass. J Genet Genomics 2009, 36:89-97. 10.1016/S1673-8527(08)60095-8, 19232307.
21. Zhang ZX, Lei SF, Deng FY, Zhang F, Liu YJ, Recker RR, Papasian CJ, Deng HW. Bivariate genome-wide linkage analysis for traits BMD and AAM: effect of menopause on linkage signals. Maturitas 2009, 62:16-20. 10.1016/j.maturitas.2008.10.001, 19019586.
22. Ioannidis JP, Ng MY, Sham PC, Zintzaras E, Lewis CM, Deng HW, Econs MJ, Karasik D, Devoto M, Kammerer CM, Spector T, Andrew T, Cupples LA, Duncan EL, Foroud T, Kiel DP, Koller D, Langdahl B, Mitchell BD, Peacock M, Recker R, Shen H, Sol-Church K, Spotila LD, Uitterlinden AG, Wilson SG, Kung AW, Ralston SH. Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass. J Bone Miner Res 2007, 22:173-183.
23. Karasik D, Dupuis J, Cho K, Cupples LA, Zhou Y, Kiel DP, Demissie S. Refined QTLs of osteoporosis-related traits by linkage analysis with genome-wide SNPs: Framingham SHARe. Bone 2010, 46:1114-1121. 10.1016/j.bone.2010.01.001, 2842472, 20064633.
24. Zheng HF, Spector TD, Richards JB. Insights into the genetics of osteoporosis from recent genome-wide association studies. Expert Rev Mol Med 2011, 13:e28.
25. Duncan EL, Danoy P, Kemp JP, Leo PJ, McCloskey E, Nicholson GC, Eastell R, Prince RL, Eisman JA, Jones G, Sambrook PN, Reid IR, Dennison EM, Wark J, Richards JB, Uitterlinden AG, Spector TD, Esapa C, Cox RD, Brown SD, Thakker RV, Addison KA, Bradbury LA, Center JR, Cooper C, Cremin C, Estrada K, Felsenberg D, Glüer CC, Hadler J, et al. Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk. PLoS Genet 2011, 7:e1001372. 10.1371/journal.pgen.1001372, 3080863, 21533022.
26. Hsu YH, Zillikens MC, Wilson SG, Farber CR, Demissie S, Soranzo N, Bianchi EN, Grundberg E, Liang L, Richards JB, Estrada K, Zhou Y, van Nas A, Moffatt MF, Zhai G, Hofman A, van Meurs JB, Pols HA, Price RI, Nilsson O, Pastinen T, Cupples LA, Lusis AJ, Schadt EE, Ferrari S, Uitterlinden AG, Rivadeneira F, Spector TD, Karasik D, Kiel DP. 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. 10.1371/journal.pgen.1000977, 2883588, 20548944.
27. Li WF, Hou SX, Yu B, Li MM, Ferec C, Chen JM. Genetics of osteoporosis: accelerating pace in gene identification and validation. Hum Genet 2010, 127:249-285. 10.1007/s00439-009-0773-z, 20101412.
28. Koller DL, Ichikawa S, Lai D, Padgett LR, Doheny KF, Pugh E, Paschall J, Hui SL, Edenberg HJ, Xuei X, Peacock M, Econs MJ, Foroud T. Genome-wide association study of bone mineral density in premenopausal European-American women and replication in African-American women. J Clin Endocrinol Metab 2010, 95:1802-1809. 10.1210/jc.2009-1903, 2853986, 20164292.
29. Ichikawa S, Koller DL, Padgett LR, Lai D, Hui SL, Peacock M, Foroud T, Econs MJ. Replication of previous genome-wide association studies of bone mineral density in premenopausal American women. J Bone Miner Res 2010, 25:1821-1829. 10.1002/jbmr.62, 3153352, 20200978.
30. Liu SL, Lei SF, Yang F, Li X, Liu R, Nie S, Liu XG, Yang TL, Guo Y, Deng FY, Tian Q, Li J, Liu YZ, Liu YJ, Shen H, Deng HW. Copy number variation in CNP267 region may be associated with hip bone size. PLoS One 2011, 6:e22035. 10.1371/journal.pone.0022035, 3137628, 21789208.
31. Rivadeneira F, Styrkársdottir U, Estrada K, Halldórsson BV, Hsu YH, Richards JB, Zillikens MC, Kavvoura FK, Amin N, Aulchenko YS, Cupples LA, Deloukas P, Demissie S, Grundberg E, Hofman A, Kong A, Karasik D, van Meurs JB, Oostra B, Pastinen T, Pols HA, Sigurdsson G, Soranzo N, Thorleifsson G, Thorsteinsdottir U, Williams FM, Wilson SG, Zhou Y, Ralston SH, van Duijn CM, et al. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet 2009, 41:1199-1206. 10.1038/ng.446, 2783489, 19801982.
32. Cheung CL, Sham PC, Xiao SM, Bow CH, Kung AW. Meta-analysis of gene-based genome-wide association studies of bone mineral density in Chinese and European subjects. Osteoporos Int 2012, 23:131-142. 10.1007/s00198-011-1779-7, 3249198, 21927923.
33. Estrada K, Styrkarsdottir U, Evangelou E, Hsu YH, Duncan EL, Ntzani EE, Oei L, Albagha OM, Amin N, Kemp JP, Koller DL, Li G, Liu CT, Minster RL, Moayyeri A, Vandenput L, Willner D, Xiao SM, Yerges-Armstrong LM, Zheng HF, Alonso N, Eriksson J, Kammerer CM, Kaptoge SK, Leo PJ, Thorleifsson G, Wilson SG, Wilson JF, Aalto V, Alen M, 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. 10.1038/ng.2249, 3338864, 22504420.
34. Saint-Pierre A, Kaufman JM, Ostertag A, Cohen-Solal M, Boland A, Toye K, Zelenika D, Lathrop M, de Vernejoul MC, Martinez M. Bivariate association analysis in selected samples: application to a GWAS of two bone mineral density phenotypes in males with high or low BMD. Eur J Hum Genet 2011, 19:710-716. 10.1038/ejhg.2011.22, 3110051, 21427758.
35. Sun L, Tan LJ, Lei SF, Chen XD, Li X, Pan R, Yin F, Liu QW, Yan XF, Papasian CJ, Deng HW. Bivariate genome-wide association analyses of femoral neck bone geometry and appendicular lean mass. PLoS One 2011, 6:e27325. 10.1371/journal.pone.0027325, 3210160, 22087292.
36. Zhang L, Guo YF, Liu YZ, Liu YJ, Xiong DH, Liu XG, Wang L, Yang TL, Lei SF, Guo Y, Yan H, Pei YF, Zhang F, Papasian CJ, Recker RR, Deng HW. Pathway-based genome-wide association analysis identified the importance of regulation-of-autophagy pathway for ultradistal radius BMD. J Bone Miner Res 2010, 25:1572-1580. 10.1002/jbmr.36, 3153999, 20200951.
37. Zhang YP, Liu YZ, Guo Y, Liu XG, Xu XH, Guo YF, Chen Y, Zhang F, Pan F, Zhu XZ, Deng HW. Pathway-based association analyses identified TRAIL pathway for osteoporotic fractures. PLoS One 2011, 6:e21835. 10.1371/journal.pone.0021835, 3132733, 21760914.
38. Hindorff LA, Sethupathy P, Junkins HA, Ramos EM, Mehta JP, Collins FS, Manolio TA. Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proc Natl Acad Sci USA 2009, 106:9362-9367. 10.1073/pnas.0903103106, 2687147, 19474294.
39. Deng FY, Lei SF, Zhang Y, Zhang YL, Zheng YP, Zhang LS, Pan R, Wang L, Tian Q, Shen H, Zhao M, Lundberg YW, Liu YZ, Papasian CJ, Deng HW. Peripheral blood monocyte-expressed ANXA2 gene is involved in pathogenesis of osteoporosis in humans. Mol Cell Proteomics 2011, 10:M111.011700. 10.1074/mcp.M111.011700, 3226411, 21817168.
40. Guo Y, Tan LJ, Lei SF, Yang TL, Chen XD, Zhang F, Chen Y, Pan F, Yan H, Liu X, Tian Q, Zhang ZX, Zhou Q, Qiu C, Dong SS, Xu XH, Guo YF, Zhu XZ, Liu SL, Wang XL, Li X, Luo Y, Zhang LS, Li M, Wang JT, Wen T, Drees B, Hamilton J, Papasian CJ, Recker RR, et al. Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis. PLoS Genet 2010, 6:e1000806. 10.1371/journal.pgen.1000806, 2794362, 20072603.
41. Liu YZ, Pei YF, Liu JF, Yang F, Guo Y, Zhang L, Liu XG, Yan H, Wang L, Zhang YP, Levy S, Recker RR, Deng HW. Powerful bivariate genome-wide association analyses suggest the SOX6 gene influencing both obesity and osteoporosis phenotypes in males. PLoS One 2009, 4:e6827. 10.1371/journal.pone.0006827, 2730014, 19714249.
42. Deng FY, Zhao LJ, Pei YF, Sha BY, Liu XG, Yan H, Wang L, Yang TL, Recker RR, Papasian CJ, Deng HW. Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians. Osteoporos Int 2010, 21:579-587. 2924432,2924432, 19680589.
43. Yao S, Sucheston LE, Smiley SL, Davis W, Conroy JM, Nowak NJ, Ambrosone CB, McCarthy PL, Hahn T. Common genetic variants are associated with accelerated bone mineral density loss after hematopoietic cell transplantation. PLoS One 2011, 6:e25940. 10.1371/journal.pone.0025940, 3195081, 22022476.
44. Roshandel D, Holliday KL, Pye SR, Boonen S, Borghs H, Vanderschueren D, Huhtaniemi IT, Adams JE, Ward KA, Bartfai G, Casanueva F, Finn JD, Forti G, Giwercman A, Han TS, Kula K, Lean ME, Pendleton N, Punab M, Silman AJ, Wu FC, Thomson W, O'Neill TW, EMAS Study Group Genetic variation in the RANKL/RANK/OPG signaling pathway is associated with bone turnover and bone mineral density in men. J Bone Miner Res 2010, 25:1830-1838. 10.1002/jbmr.78, 20205168, EMAS Study Group.
45. Kou I, Takahashi A, Urano T, Fukui N, Ito H, Ozaki K, Tanaka T, Hosoi T, Shiraki M, Inoue S, Nakamura Y, Kamatani N, Kubo M, Mori S, Ikegawa S. Common variants in a novel gene, FONG on chromosome 2q33.1 confer risk of osteoporosis in Japanese. PLoS One 2011, 6:e19641. 10.1371/journal.pone.0019641, 3089633, 21573128.
46. Kung AW, Xiao SM, Cherny S, Li GH, Gao Y, Tso G, Lau KS, Luk KD, Liu JM, Cui B, Zhang MJ, Zhang ZL, He JW, Yue H, Xia WB, Luo LM, He SL, Kiel DP, Karasik D, Hsu YH, Cupples LA, Demissie S, Styrkarsdottir U, Halldorsson BV, Sigurdsson G, Thorsteinsdottir U, Stefansson K, Richards JB, Zhai G, Soranzo N, et al. Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies. Am J Hum Genet 2010, 86:229-239. 10.1016/j.ajhg.2009.12.014, 2820171, 20096396.
47. He JW, Yue H, Hu WW, Hu YQ, Zhang ZL. Contribution of the sclerostin domain-containing protein 1 (SOSTDC1) gene to normal variation of peak bone mineral density in Chinese women and men. J Bone Miner Metab 2011, 29:571-581. 10.1007/s00774-010-0253-5, 21221677.
48. Holliday KL, Pye SR, Thomson W, Boonen S, Borghs H, Vanderschueren D, Gielen E, Huhtaniemi IT, Adams JE, Ward KA, Bartfai G, Casanueva F, Finn JD, Forti G, Giwercman A, Han TS, Kula K, Labrie F, Lean ME, Pendleton N, Punab M, Wu FC, O'Neill TW. The ESR1 (6q25) locus is associated with calcaneal ultrasound parameters and radial volumetric bone mineral density in European men. PLoS One 2011, 6:e22037. 10.1371/journal.pone.0022037, 3131390, 21760950.
49. Yang TL, Guo Y, Liu YJ, Shen H, Liu YZ, Lei SF, Li J, Tian Q, Deng HW. Genetic variants in the SOX6 gene are associated with bone mineral density in both Caucasian and Chinese populations. Osteoporos Int 2012, 23:781-787. 10.1007/s00198-011-1626-x, 21625884.
50. Lei SF, Shen H, Yang TL, Guo Y, Dong SS, Xu XH, Deng FY, Tian Q, Liu YJ, Liu YZ, Li J, Deng HW. Genome-wide association study identifies HMGN3 locus for spine bone size variation in Chinese. Hum Genet 2012, 131:463-469. 10.1007/s00439-011-1093-7, 21947420.
51. Tan L, Liu R, Lei S, Pan R, Yang T, Yan H, Pei Y, Yang F, Zhang F, Pan F, Zhang Y, Hu H, Levy S, Deng H. A genome-wide association analysis implicates SOX6 as a candidate gene for wrist bone mass. Sci China Life Sci 2010, 53:1065-1072. 10.1007/s11427-010-4056-7, 21104366.
52. Guo Y, Zhang LS, Yang TL, Tian Q, Xiong DH, Pei YF, Deng HW. IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study. J Bone Miner Res 2010, 25:1042-1048. 3153368, 19874204.
53. Styrkarsdottir U, Halldorsson BV, Gudbjartsson DF, Tang NL, Koh JM, Xiao SM, Kwok TC, Kim GS, Chan JC, Cherny S, Lee SH, Kwok A, Ho S, Gretarsdottir S, Kostic JP, Palsson ST, Sigurdsson G, Sham PC, Kim BJ, Kung AW, Kim SY, Woo J, Leung PC, Kong A, Thorsteinsdottir U, Stefansson K. European bone mineral density loci are also associated with BMD in East-Asian populations. PLoS One 2010, 5:e13217. 10.1371/journal.pone.0013217, 2951352, 20949110.
54. Li WF, Hou SX, Yu B, Li MM, Ferec C, Chen JM. Genetics of osteoporosis: accelerating pace in gene identification and validation. Hum Genet 2010, 127:249-285. 10.1007/s00439-009-0773-z, 20101412.
55. Guo Y, Wang JT, Liu H, Li M, Yang TL, Zhang XW, Liu YZ, Tian Q, Deng HW. Are bone mineral density loci associated with hip osteoporotic fractures? A validation study on previously reported genome-wide association loci in a Chinese population. Genet Mol Res 2012, 11:202-210. 10.4238/2012.January.31.1, 22370887.
56. Richards JB, Kavvoura FK, Rivadeneira F, Styrkársdóttir U, Estrada K, Halldórsson BV, Hsu YH, Zillikens MC, Wilson SG, Mullin BH, Amin N, Aulchenko YS, Cupples LA, Deloukas P, Demissie S, Hofman A, Kong A, Karasik D, van Meurs JB, Oostra BA, Pols HA, Sigurdsson G, Thorsteinsdottir U, Soranzo N, Williams FM, Zhou Y, Ralston SH, Thorleifsson G, van Duijn CM, Kiel DP, et al. Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture. Ann Intern Med 2009, 151:528-537. 10.7326/0003-4819-151-8-200910200-00006, 2842981, 19841454.
57. Wang C, Zhang Z, Zhang H, He JW, Gu JM, Hu WW, Hu YQ, Li M, Liu YJ, Fu WZ, Yue H, Ke YH, Zhang ZL. Susceptibility genes for osteoporotic fracture in postmenopausal Chinese women. J Bone Miner Res 2012, 27:2582-2591. 10.1002/jbmr.1711, 22807154.
58. Urano T. [Genetics of osteoporosis]. Nihon Rinsho 2011, 69:1315-1321.
59. Lei SF, Wu S, Li LM, Deng FY, Xiao SM, Jiang C, Chen Y, Jiang H, Yang F, Tan LJ, Sun X, Zhu XZ, Liu MY, Liu YZ, Chen XD, Deng HW. An in vivo genome wide gene expression study of circulating monocytes suggested GBP1, STAT1 and CXCL10 as novel risk genes for the differentiation of peak bone mass. Bone 2009, 44:1010-1014. 10.1016/j.bone.2008.05.016, 19223260.
60. Chen XD, Xiao P, Lei SF, Liu YZ, Guo YF, Deng FY, Tan LJ, Zhu XZ, Chen FR, Recker RR, Deng HW. Gene expression profiling in monocytes and SNP association suggest the importance of the STAT1 gene for osteoporosis in both Chinese and Caucasians. J Bone Miner Res 2009, 25:339-355.
61. You L, Sheng ZY, Tang CL, Chen L, Pan L, Chen JY. High cholesterol diet increases osteoporosis risk via inhibiting bone formation in rats. Acta Pharmacol Sin 2011, 32:1498-1504. 10.1038/aps.2011.135, 22036861.
62. Trost Z, Trebse R, Prezelj J, Komadina R, Logar DB, Marc J. A microarray based identification of osteoporosis-related genes in primary culture of human osteoblasts. Bone 2010, 46:72-80. 10.1016/j.bone.2009.09.015, 19781675.
63. Kominsky SL, Abdelmagid SM, Doucet M, Brady K, Weber KL. Macrophage inflammatory protein-1 delta: a novel osteoclast stimulating factor secreted by renal cell carcinoma bone metastasis. Cancer Res 2008, 68:1261-1266. 10.1158/0008-5472.CAN-07-6122, 18316587.
64. Kulterer B, Friedl G, Jandrositz A, Sanchez-Cabo F, Prokesch A, Paar C, Scheideler M, Windhager R, Preisegger KH, Trajanoski Z. Gene expression profiling of human mesenchymal stem cells derived from bone marrow during expansion and osteoblast differentiation. BMC Genomics 2007, 8:70. 10.1186/1471-2164-8-70, 1829400, 17352823.
65. Tanabe S, Sato Y, Suzuki T, Suzuki K, Nagao T, Yamaguchi T. Gene expression profiling of human mesenchymal stem cells for identification of novel markers in early- and late-stage cell culture. J Biochem 2008, 144:399-408. 10.1093/jb/mvn082, 18550633.
66. Xiao Y, Cui J, Shi Y, Le G. Lipoic acid increases the expression of genes involved in bone formation in mice fed a high-fat diet. Nutr Res 2011, 31:309-317. 10.1016/j.nutres.2011.03.013, 21530805.
67. Tarroni P, Villa I, Mrak E, Zolezzi F, Mattioli M, Gattuso C, Rubinacci A. Microarray analysis of 1,25(OH)2D3 regulated gene expression in human primary osteoblasts. J Cell Biochem 2012, 113:640-649. 10.1002/jcb.23392, 21956231.
68. Grigsby IF, Pham L, Gopalakrishnan R, Mansky LM, Mansky KC. Downregulation of Gnas, Got2 and Snord32a following tenofovir exposure of primary osteoclasts. Biochem Biophys Res Commun 2011, 391:1324-1329.
69. Bian Q, Liu SF, Huang JH, Yang Z, Tang DZ, Zhou Q, Ning Y, Zhao YJ, Lu S, Shen ZY, Wang YJ. Oleanolic acid exerts an osteoprotective effect in ovariectomy-induced osteoporotic rats and stimulates the osteoblastic differentiation of bone mesenchymal stem cells in vitro. Menopause 2012, 19:225-233. 10.1097/gme.0b013e3182272ef1, 22011754.
70. Li X, Liu H, Qin L, Tamasi J, Bergenstock M, Shapses S, Feyen JH, Notterman DA, Partridge NC. Determination of dual effects of parathyroid hormone on skeletal gene expression in vivo by microarray and network analysis. J Biol Chem 2007, 282:33086-33097. 10.1074/jbc.M705194200, 17690103.
71. Farber CR. Systems genetics: a novel approach to dissect the genetic basis of osteoporosis. Curr Osteoporos Rep 2012, 10:228-235. 10.1007/s11914-012-0112-5, 22802146.
72. Martin A, Liu S, David V, Li H, Karydis A, Feng JQ, Quarles LD. Bone proteins PHEX and DMP1 regulate fibroblastic growth factor Fgf23 expression in osteocytes through a common pathway involving FGF receptor (FGFR) signaling. FASEB J 2011, 25:2551-2562. 10.1096/fj.10-177816, 3136343, 21507898.
73. Choi HY, Dieckmann M, Herz J, Niemeier A. Lrp4, a novel receptor for Dickkopf 1 and sclerostin, is expressed by osteoblasts and regulates bone growth and turnover in vivo. PLoS One 2009, 4:e7930. 10.1371/journal.pone.0007930, 2775917, 19936252.
74. Reppe S, Refvem H, Gautvik VT, Olstad OK, Hovring PI, Reinholt FP, Holden M, Frigessi A, Jemtland R, Gautvik KM. Eight genes are highly associated with BMD variation in postmenopausal Caucasian women. Bone 2010, 46:604-612. 10.1016/j.bone.2009.11.007, 19922823.
75. Alves RD, Eijken M, Swagemakers S, Chiba H, Titulaer MK, Burgers PC, Luider TM, van Leeuwen JP. Proteomic analysis of human osteoblastic cells: relevant proteins and functional categories for differentiation. J Proteome Res 2010, 9:4688-4700. 10.1021/pr100400d, 20690663.
76. Taniguchi T, Kido S, Yamauchi E, Abe M, Matsumoto T, Taniguchi H. Induction of endosomal/lysosomal pathways in differentiating osteoblasts as revealed by combined proteomic and transcriptomic analyses. FEBS Lett 2010, 584:3969-3974. 10.1016/j.febslet.2010.07.055, 20682313.
77. Kumar A, Singh AK, Gautam AK, Chandra D, Singh D, Changkija B, Singh MP, Trivedi R. Identification of kaempferol-regulated proteins in rat calvarial osteoblasts during mineralization by proteomics. Proteomics 2010, 10:1730-1739. 10.1002/pmic.200900666, 20162559.
78. Zhu Z, Xue LM, Han T, Jiao L, Qin LP, Li YS, Zheng HC, Zhang QY. Antiosteoporotic effects and proteomic characterization of the target and mechanism of an Er-Xian Decoction on osteoblastic UMR-106 and osteoclasts induced from RAW264.7. Molecules 2010, 15:4695-4710. 10.3390/molecules15074695, 20657386.
79. Hong D, Chen HX, Yu HQ, Liang Y, Wang C, Lian QQ, Deng HT, Ge RS. Morphological and proteomic analysis of early stage of osteoblast differentiation in osteoblastic progenitor cells. Exp Cell Res 2010, 316:2291-2300. 10.1016/j.yexcr.2010.05.011, 20483354.
80. Kim WK, Bae KH, Choi HR, Kim DH, Choi KS, Cho YS, Kim HD, Park SG, Park BC, Ko Y, Lee SC. Leukocyte common antigen-related (LAR) tyrosine phosphatase positively regulates osteoblast differentiation by modulating extracellular signal-regulated kinase (ERK) activation. Mol Cells 2010, 30:335-340. 10.1007/s10059-010-0123-y, 20811813.
81. Saad FA, Hofstaetter JG. Proteomic analysis of mineralising osteoblasts identifies novel genes related to bone matrix mineralisation. Int Orthop 2011, 35:447-451. 10.1007/s00264-010-1076-7, 3047647, 20556378.
82. Choi YA, Lim J, Kim KM, Acharya B, Cho JY, Bae YC, Shin HI, Kim SY, Park EK. Secretome analysis of human BMSCs and identification of SMOC1 as an important ECM protein in osteoblast differentiation. J Proteome Res 2010, 9:2946-2956. 10.1021/pr901110q, 20359165.
83. Zhang H, Lu W, Zhao Y, Rong P, Cao R, Gu W, Xiao J, Miao D, Lappe J, Recker R, Xiao GG. Adipocytes derived from human bone marrow mesenchymal stem cells exert inhibitory effects on osteoblastogenesis. Curr Mol Med 2011, 11:489-502. 10.2174/156652411796268704, 21663588.
84. Kendler DL, Roux C, Benhamou CL, Brown JP, Lillestol M, Siddhanti S, Man HS, San Martin J, Bone HG. Effects of denosumab on bone mineral density and bone turnover in postmenopausal women transitioning from alendronate therapy. J Bone Miner Res 2010, 25:72-81. 10.1359/jbmr.090716, 19594293.
85. Kostenuik PJ, Nguyen HQ, McCabe J, Warmington KS, Kurahara C, Sun N, Chen C, Li L, Cattley RC, Van G, Scully S, Elliott R, Grisanti M, Morony S, Tan HL, Asuncion F, Li X, Ominsky MS, Stolina M, Dwyer D, Dougall WC, Hawkins N, Boyle WJ, Simonet WS, Sullivan JK. Denosumab, a fully human monoclonal antibody to RANKL, inhibits bone resorption and increases BMD in knock-in mice that express chimeric (murine/human) RANKL. J Bone Miner Res 2009, 24:182-195. 10.1359/jbmr.081112, 19016581.
86. Guo D, Keightley A, Guthrie J, Veno PA, Harris SE, Bonewald LF. Identification of osteocyte-selective proteins. Proteomics 2010, 10:3688-3698. 10.1002/pmic.201000306, 3517134, 20845334.
87. Leupin O, Piters E, Halleux C, Hu S, Kramer I, Morvan F, Bouwmeester T, Schirle M, Bueno-Lozano M, Fuentes FJ, Itin PH, Boudin E, de Freitas F, Jennes K, Brannetti B, Charara N, Ebersbach H, Geisse S, Lu CX, Bauer A, Van Hul W, Kneissel M. Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. J Biol Chem 2011, 286:19489-19500. 10.1074/jbc.M110.190330, 3103328, 21471202.
88. Bab I, Smoum R, Bradshaw H, Mechoulam R. Skeletal lipidomics: regulation of bone metabolism by fatty acid amide family. Br J Pharmacol 2011, 163:1441-1446. 10.1111/j.1476-5381.2011.01474.x, 3165954, 21557736.
89. Deng FY, Lei SF, Chen XD, Tan LJ, Zhu XZ, Deng HW. An integrative study ascertained SOD2 as a susceptibility gene for osteoporosis in Chinese. J Bone Miner Res 2011, 26:2695-2701. 10.1002/jbmr.471, 3375319, 21773993.
90. Shao C, Chen L, Lu C, Shen CL, Gao W. A gel-based proteomic analysis of the effects of green tea polyphenols on ovariectomized rats. Nutrition 2011, 27:681-686. 10.1016/j.nut.2010.05.019, 20708377.
91. Hamilton JP. Epigenetics: principles and practice. Dig Dis 2011, 29:130-135. 10.1159/000323874, 3134032, 21734376.
92. Graff J, Mansuy IM. Epigenetic dysregulation in cognitive disorders. Eur J Neurosci 2009, 30:1-8. 10.1111/j.1460-9568.2009.06787.x, 19508697.
93. Brooks WH, Le Dantec C, Pers JO, Youinou P, Renaudineau Y. Epigenetics and autoimmunity. J Autoimmun 2010, 34:J207-219. 10.1016/j.jaut.2009.12.006, 20053532.
94. Calvanese V, Lara E, Kahn A, Fraga MF. The role of epigenetics in aging and age-related diseases. Ageing Res Rev 2009, 8:268-276. 10.1016/j.arr.2009.03.004, 19716530.
95. Barter MJ, Bui C, Young DA. Epigenetic mechanisms in cartilage and osteoarthritis: DNA methylation, histone modifications and microRNAs. Osteoarthritis Cartilage 2012, 20:339-349. 10.1016/j.joca.2011.12.012, 22281264.
96. Berdasco M, Esteller M. DNA methylation in stem cell renewal and multipotency. Stem Cell Res Ther 2011, 2:42. 10.1186/scrt83, 3308039, 22041459.
97. Hsiao SH, Lee KD, Hsu CC, Tseng MJ, Jin VX, Sun WS, Hung YC, Yeh KT, Yan PS, Lai YY, Sun HS, Lu YJ, Chang YS, Tsai SJ, Huang TH, Leu YW. DNA methylation of the Trip10 promoter accelerates mesenchymal stem cell lineage determination. Biochem Biophys Res Commun 2010, 400:305-312. 10.1016/j.bbrc.2010.08.048, 20727853.
98. Delgado-Calle J, Sanudo C, Bolado A, Fernandez AF, Arozamena J, Pascual-Carra MA, Rodriguez-Rey JC, Fraga MF, Bonewald L, Riancho JA. DNA methylation contributes to the regulation of sclerostin expression in human osteocytes. J Bone Miner Res 2011, 27:926-937.
99. 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. 10.4161/epi.7.1.18753, 3337833, 22207352.
100. Han JW, Yoon YS. Epigenetic landscape of pluripotent stem cells. Antioxid Redox Signal 2012, 17:205-223. 10.1089/ars.2011.4375, 22044221.
101. Holroyd C, Harvey N, Dennison E, Cooper C. Epigenetic influences in the developmental origins of osteoporosis. Osteoporos Int 2012, 23:401-410.
102. You L, Pan L, Chen L, Chen JY, Zhang X, Lv Z, Fu D. Suppression of zinc finger protein 467 alleviates osteoporosis through promoting differentiation of adipose derived stem cells to osteoblasts. J Transl Med 2012, 10:11. 10.1186/1479-5876-10-11, 3293781, 22252242.
103. Zupan J, Mencej-Bedrac S, Jurkovic-Mlakar S, Prezelj J, Marc J. Gene-gene interactions in RANK/RANKL/OPG system influence bone mineral density in postmenopausal women. J Steroid Biochem Mol Biol 2010, 118:102-106. 10.1016/j.jsbmb.2009.10.013, 19896533.
104. King TD, Suto MJ, Li Y. The Wnt/beta-catenin signaling pathway: a potential therapeutic target in the treatment of triple negative breast cancer. J Cell Biochem 2012, 113:13-18. 10.1002/jcb.23350, 21898546.
105. Pineda B, Tarin JJ, Hermenegildo C, Laporta P, Cano A, Garcia-Perez MA. Gene-gene interaction between CD40 and CD40L reduces bone mineral density and increases osteoporosis risk in women. Osteoporos Int 2011, 22:1451-1458. 10.1007/s00198-010-1324-0, 20577873.
106. Sonoda T, Takada J, Iba K, Asakura S, Yamashita T, Mori M. Interaction between ESRalpha polymorphisms and environmental factors in osteoporosis. J Orthop Res 2012, 30:1529-1534. 10.1002/jor.22083, 22328322.
107. Farber CR, Bennett BJ, Orozco L, Zou W, Lira A, Kostem E, Kang HM, Furlotte N, Berberyan A, Ghazalpour A, Suwanwela J, Drake TA, Eskin E, Wang QT, Teitelbaum SL, Lusis AJ. Mouse genome-wide association and systems genetics identify Asxl2 as a regulator of bone mineral density and osteoclastogenesis. PLoS Genet 2011, 7:e1002038. 10.1371/journal.pgen.1002038, 3072371, 21490954.
108. Rojo Venegas K, Aguilera Gomez M, Eisman JA, Garcia Sanchez A, Faus Dader MJ, Calleja Hernandez MA. Pharmacogenetics of osteoporosis-related bone fractures: moving towards the harmonization and validation of polymorphism diagnostic tools. Pharmacogenomics 2010, 11:1287-1303. 10.2217/pgs.10.116, 20860468.
109. Shiraki M, Sugimoto T, Nakamura T. Effects of a single injection of teriparatide on bone turnover markers in postmenopausal women. Osteoporos Int 2013, 24:219-226. 10.1007/s00198-012-2159-7, 3536955, 23093347.