• 1
    Anonymous 2001 Osteoporosis prevention, diagnosis, and therapy. JAMA 285:785795.
  • 2
    Bouxsein ML 2001 Biomechanics of age-related fractures. In: MarcusR, FeldmanD, KelseyJL (eds.) Osteoporosis, 2nd ed. Academic Press, San Diego, CA, USA, pp. 509534.
  • 3
    Fox KM, Cummings SR, Powell-Threets K, Stone K 1998 Family history and risk of osteoporotic fracture. Study of Osteoporotic Fractures Research Group. Osteoporos Int 8:557562.
  • 4
    Keen RW, Hart DJ, Arden NK, Doyle DV, Spector TD 1999 Family history of appendicular fracture and risk of osteoporosis: A population-based study. Osteoporos Int 10:161166.
  • 5
    Eisman JA 1999 Genetics of osteoporosis. Endocr Rev 20:788804.
  • 6
    Stewart TL, Ralston SH 2000 Role of genetic factors in the pathogenesis of osteoporosis. J Endocrinol 166:235245.
  • 7
    Peacock M, Turner CH, Econs MJ, Foroud T 2002 Genetics of osteoporosis. Endocr Rev 23:303326.
  • 8
    Koller DL, Liu G, Econs MJ, Hui SL, Morin PA, Joslyn G, Rodriguez LA, Conneally PM, Christian JC, Johnston CC Jr, Foroud T, Peacock M 2001 Genome screen for quantitative trait loci underlying normal variation in femoral structure. J Bone Miner Res 16:985991.
  • 9
    Livshits G, Yakovenko K, Kobyliansky E 2003 Quantitative genetic study of radiographic hand bone size and geometry. Bone 32:191198.
  • 10
    Kelly PJ, Hopper JL, Macaskill GT, Pocock NA, Sambrook PN, Eisman JA 1991 Genetic factors in bone turnover. J Clin Endocrinol Metab 72:808813.
  • 11
    Tokita A, Kelly PJ, Nguyen TV, Qi JC, Morrison NA, Risteli L, Risteli J, Sambrook PN, Eisman JA 1994 Genetic influences on type I collagen synthesis and degradation: Further evidence for genetic regulation of bone turnover. J Clin Endocrinol Metab 78:14611466.
  • 12
    Garnero P, Arden NK, Griffiths G, Delmas PD, Spector TD 1996 Genetic influence on bone turnover in postmenopausal twins. J Clin Endocrinol Metab 81:140146.
  • 13
    Harris M, Nguyen TV, Howard GM, Kelly PJ, Eisman JA 1998 Genetic and environmental correlations between bone formation and bone mineral density: A twin study. Bone 22:141145.
  • 14
    Uitterlinden A, Van Leeuwen J, Pols H 2001 Genetics and genomics of osteoporosis. In: MarcusR, FeldmanD, KelseyJ (eds.) Osteoporosis, Vol. 2. Academic Press, San Diego, CA, USA, pp. 639668.
  • 15
    Nguyen TV, Blangero J, Eisman JA 2000 Genetic epidemiological approaches to the search for osteoporosis genes. J Bone Miner Res 15:392401.
  • 16
    Lee C 2002 Irresistable force meets immovable object: SNP mapping of complex diseases. Trends Genet 18:7669.
  • 17
    Klein RF, Turner RJ, Skinner LD, Vartanian KA, Serang M, Carlos AS, Shea M, Belknap JK, Orwoll ES 2002 Mapping quantitative trait loci that influence femoral cross-sectional area in mice. J Bone Miner Res 17:17521760.
  • 18
    Korstanje R, Paigen B 2002 From QTL to gene: The harvest begins. Nat Genet 31:235236.
  • 19
    Shultz KL, Donahue LR, Bouxsein ML, Baylink DJ, Rosen CJ, Beamer WG 2003 Congenic strains of mice for verification and genetic decomposition of quantitative trait loci for femoral bone mineral density. J Bone Miner Res 18:175185.
  • 20
    Shmookler Reis RJ 2003 From QTL mapping to genes: The long and winding road. J Bone Miner Res 18:186189.
  • 21
    Klein RF, Mitchell SR, Phillips TJ, Belknap JK, Orwoll ES 1998 Quantitative trait loci affecting peak bone mineral density in mice. J Bone Miner Res 13:16481656.
  • 22
    Benes H, Weinstein RS, Zheng W, Thaden JJ, Jilka RL, Manolagas SC, Shmookler Reis RJ 2000 Chromosomal mapping of osteopenia-associated quantitative trait loci using closely related mouse strains. J Bone Miner Res 15:626633.
  • 23
    Klein OF, Carlos AS, Vartanian KA, Chambers VK, Turner EJ, Phillips TJ, Belknap JK, Orwoll ES 2001 Confirmation and fine mapping of chromosomal regions influencing peak bone mass in mice. J Bone Miner Res 16:19531961.
  • 24
    Orwoll ES, Belknap JK, Klein RF 2001 Gender specificity in the genetic determinants of peak bone mass. J Bone Miner Res 16:19621971.
  • 25
    Shimizu M, Higuchi K, Kasai S, Tsuboyama T, Matsushita M, Mori M, Shimizu Y, Nakamura T, Hosokawa M 2001 Chromosome 13 locus, Pbd2, regulates bone density in mice. J Bone Miner Res 16:19721982.
  • 26
    Beamer WG, Shultz KL, Churchill GA, Frankel WN, Baylink DJ, Rosen CJ, Donahue LR 1999 Quantitative trait loci for bone density in C57BL/6J and CAST/EiJ inbred mice. Mamm Genome 10:10431049.
  • 27
    Beamer WG, Shultz KL, Donahue LR, Churchill GA, Sen S, Wergedal JR, Baylink DJ, Rosen CJ 2001 Quantitative trait loci for femoral and lumbar vertebral bone mineral density in C57BL/6J and C3H/HeJ inbred strains of mice. J Bone Miner Res 16:11951206.
  • 28
    Shimizu M, Higuchi K, Bennett B, Xia C, Tsuboyama T, Kasai S, Chiba T, Fujisawa H, Kogishi K, Kitado H, Kimoto M, Takeda N, Matsushita M, Okumura H, Serikawa T, Nakamura T, Johnson TE, Hosokawa M 1999 Identification of peak bone mass QTL in a spontaneously osteoporotic mouse strain. Mamm Genome 10:8187.
  • 29
    Volkman S, Galecki A, Burke D, Paczas M, Moalli M, Miller R, Goldstein S 2002 Identification of five genetic markers in mice that influence femoral size and shape. J Bone Miner Res 17:S321.
  • 30
    Drake TA, Schadt E, Hannani K, Kabo JM, Krass K, Colinayo V, Greaser LE III, Goldin J, Lusis AJ 2001 Genetic loci determining bone density in mice with diet-induced atherosclerosis. Physiol Genomics 5:205215.
  • 31
    Corva PM, Medrano JF 2001 Quantitative trait loci (QTLs) mapping for growth traits in the mouse: A review. Genet Sel Evol 33:105132.
  • 32
    Corva PM, Horvat S, Medrano JF 2001 Quantitative trait loci affecting growth in high growth (hg) mice. Mamm Genome 12:284290.
  • 33
    Christians JK, Bingham VK, Oliver FK, Heath TT, Keightley PD 2003 Characterization of a QTL affecting skeletal size in mice. Mamm Genome 14:175183.
  • 34
    Li X, Masinde G, Gu W, Wergedal J, Mohan S, Baylink DJ 2002 Genetic dissection of femur breaking strength in a large population (MRL/MpJ × SJL/J) of F2 Mice: Single QTL effects, epistasis, and pleiotropy. Genomics 79:734740.
  • 35
    Koller D, Schriefer J, Sun Q, Shultz K, Donahue L, Rosen C, Foroud T, Beamer W, Turner C 2003 Genetic effects for femoral biomechanics, structure and density in C57BL/6J and C3H/HeJ inbred mouse strains. J Bone Miner Res 18:17581765.
  • 36
    Rockoff SD, Sweet E, Bleustein J 1969 The relative contribution of trabecular and cortical bone to the strength of human lumbar vertebrae. Calcif Tissue Res 3:163175.
  • 37
    Mosekilde L, Mosekilde L 1990 Sex differences in age-related changes in vertebral body size, density and biomechanical competence in normal individuals. Bone 11:6773.
  • 38
    Silva M, Keaveny T, Hayes W 1997 Load sharing between the shell and centrum in the lumbar vertebral body. Spine 22:140150.
  • 39
    Lotz J, Cheal E, Hayes W 1995 Stress distributions within the proximal femur during gait and falls: Implications for osteoporotic fracture. Osteoporos Int 5:252261.
  • 40
    Beamer WG, Donahue LR, Rosen CJ, Baylink DJ 1996 Genetic variability in adult bone density among inbred strains of mice. Bone 18:397403.
  • 41
    Rosen CJ, Dimai HP, Vereault D, Donahue LR, Beamer WG, Farley J, Linkhart S, Linkhart T, Mohan S, Baylink DJ 1997 Circulating and skeletal insulin-like growth factor-I (IGF-I) concentrations in two inbred strains of mice with different bone mineral densities. Bone 21:217223.
  • 42
    Dimai HP, Linkhart TA, Linkhart SG, Donahue LR, Beamer WG, Rosen CJ, Farley JR, Baylink DJ 1998 Alkaline phosphatase levels and osteoprogenitor cell numbers suggest bone formation may contribute to peak bone density differences between two inbred strains of mice. Bone 22:211216.
  • 43
    Akhter MP, Cullen DM, Pedersen EA, Kimmel DB, Recker RR 1998 Bone response to in vivo mechanical loading in two breeds of mice. Calcif Tissue Int 63:442449.
  • 44
    Sheng MH, Baylink DJ, Beamer WG, Donahue LR, Rosen CJ, Lau KH, Wergedal JE 1999 Histomorphometric studies show that bone formation and bone mineral apposition rates are greater in C3H/HeJ (high-density) than C57BL/6J (low-density) mice during growth. Bone 25:421429.
  • 45
    Kodama Y, Dimai HP, Wergedal J, Sheng M, Malpe R, Kutilek S, Beamer W, Donahue LR, Rosen C, Baylink DJ, Farley J 1999 Cortical tibial bone volume in two strains of mice: Effects of sciatic neurectomy and genetic regulation of bone response to mechanical loading. Bone 25:183190.
  • 46
    Chen C, Kalu DN 1999 Strain differences in bone density and calcium metabolism between C3H/HeJ and C57BL/6J mice. Bone 25:413420.
  • 47
    Turner CH, Hsieh YF, Muller R, Bouxsein ML, Baylink DJ, Rosen CJ, Grynpas MD, Donahue LR, Beamer WG 2000 Genetic regulation of cortical and trabecular bone strength and microstructure in inbred strains of mice. J Bone Miner Res 15:11261131.
  • 48
    Richman C, Kutilek S, Miyakoshi N, Srivastava AK, Beamer WG, Donahue LR, Rosen CJ, Wergedal JE, Baylink DJ, Mohan S 2001 Postnatal and pubertal skeletal changes contribute predominantly to the differences in peak bone density between C3H/HeJ and C57BL/6J mice. J Bone Miner Res 16:386397.
  • 49
    Jepsen KJ, Akkus OJ, Majeska RJ, Nadeau JH 2003 Hierarchical relationship between bone traits and mechanical properties in inbred mice. Mamm Genome 14:97104.
  • 50
    Ruegsegger P, Koller B, Müller R 1996 A microtomographic system for the nondestructive evaluation of bone architecture. Calcif Tissue Int 58:2429.
  • 51
    Hildebrand T, Ruegsegger P 1997 A new method for the model independent assessment of thickness in three-dimensional images. J Microsc 185:6775.
  • 52
    Hildebrand T, Laib A, Muller R, Dequeker J, Ruegsegger P 1999 Direct three-dimensional morphometric analysis of human cancellous bone: Microstructural data from spine, femur, iliac crest, and calcaneus. J Bone Miner Res 14:11671174.
  • 53
    Odgaard A 1997 Three-dimensional methods for quantification of cancellous bone architecture. Bone 20:315328.
  • 54
    Hildebrand T, Rüesegger P 1997 Quantification of bone microarchitecture with the structure model index. Comp Methods Biomech Biomed Eng 1:523.
  • 55
    Dietrich WF, Miller J, Steen R, Merchant MA, Damron-Boles D, Husain Z, Dredge R, Daly MJ, Ingalls KA, O'Connor TJ 1996 A comprehensive genetic map of the mouse genome. Nature 380:149152.
  • 56
    Rosen CJ, Churchill GA, Donahue LR, Shultz KL, Burgess JK, Powell DR, Ackert C, Beamer WG 2000 Mapping quantitative trait loci for serum insulin-like growth factor-1 levels in mice. Bone 27:521528.
  • 57
    Kao C, Zneg Z-B, Teasdale R 1999 Multiple interval mapping for quantitative trait loci. Genetics 152:12031216.
  • 58
    Sen S, Churchill GA 2001 A statistical framework for quantitative trait mapping. Genetics 159:371387.
  • 59
    Jansen R 1993 Interval mapping of multiple quantitative trait loci. Genetics 135:205211.
  • 60
    Mosekilde L 1998 The effect of modelling and remodelling on human vertebral body architecture. Technol Health Care 6:287297.
  • 61
    Homminga J, Weinans H, Gowin W, Felsenberg D, Huiskes R 2001 Osteoporosis changes the amount of vertebral trabecular bone at risk of fracture but not the vertebral load distribution. Spine 26:15551561.
  • 62
    Tanner J 1949 Fallacy of per-weight and per-surface are standards, and their relation to spurious correlation. J Appl Physiol 2:115.
  • 63
    Thomsen JS, Ebbesen EN, Mosekilde L 2002 Predicting human vertebral bone strength by vertebral static histomorphometry. Bone 30:502508.
  • 64
    Bouxsein ML, Rosen CJ, Turner CH, Ackert CL, Shultz KL, Donahue LR, Churchill G, Adamo ML, Powell DR, Turner RT, Muller R, Beamer WG 2002 Generation of a new congenic mouse strain to test the relationships among serum insulin-like growth factor I, bone mineral density, and skeletal morphology in vivo. J Bone Miner Res 17:570579.
  • 65
    Akhter MP, Iwaniec UT, Covey MA, Cullen DM, Kimmel DB, Recker RR 2000 Genetic variations in bone density, histomorphometry, and strength in mice. Calcif Tissue Int 67:337344.
  • 66
    Bouxsein ML, Solanki P, Müller R, Turner CH, Shultz KL, Ackert-Bicknell C, Donahue LR, Rosen CJ, Beamer W 2002 B6. C3H congenic mouse strains exhibit site-specific alterations in femoral and vertebral trabecular bone mass and microarchitecture. J Bone Miner Res 17:S176.
  • 67
    Dupuis J, Siegmund D 1999 Statistical methods for mapping quantitative trait loci from a dense set of markers. Genetics 151:373386.
  • 68
    Waterston RH, Lindblad-Toh K, Birney E, Rogers J, Abril JF, Agarwal P, Agarwala R, Ainscough R, Alexandersson M, An P, Antonarakis SE, Attwood J, Baertsch R, Bailey J, Barlow K, Beck S, Berry E, Birren B, Bloom T, Bork P, Botcherby M, Bray N, Brent MR, Brown DG, Brown SD, Bult C, Burton J, Butler J, Campbell RD, Carninci P, Cawley S, Chiaromonte F, Chinwalla AT, Church DM, Clamp M, Clee C, Collins FS, Cook LL, Copley RR, Coulson A, Couronne O, Cuff J, Curwen V, Cutts T, Daly M, David R, Davies J, Delehaunty KD, Deri J, Dermitzakis ET, Dewey C, Dickens NJ, Diekhans M, Dodge S, Dubchak I, Dunn DM, Eddy SR, Elnitski L, Emes RD, Eswara P, Eyras E, Felsenfeld A, Fewell GA, Flicek P, Foley K, Frankel WN, Fulton LA, Fulton RS, Furey TS, Gage D, Gibbs RA, Glusman G, Gnerre S, Goldman N, Goodstadt L, Grafham D, Graves TA, Green ED, Gregory S, Guigo R, Guyer M, Hardison RC, Haussler D, Hayashizaki Y, Hillier LW, Hinrichs A, Hlavina W, Holzer T, Hsu F, Hua A, Hubbard T, Hunt A, Jackson I, Jaffe DB, Johnson LS, Jones M, Jones TA, Joy A, Kamal M, Karlsson EK, et al. 2002 Initial sequencing and comparative analysis of the mouse genome. Nature 420:520562.
  • 69
    Koller DL, Econs MJ, Morin PA, Christian JC, Hui SL, Parry P, Curran ME, Rodriguez LA, Conneally PM, Joslyn G, Peacock M, Johnston CC, Foroud T 2000 Genome screen for QTLs contributing to normal variation in bone mineral density and osteoporosis. J Clin Endocrinol Metab 85:31163120.
  • 70
    Devoto M, Specchia C, Li HH, Caminis J, Tenenhouse A, Rodriguez H, Spotila LD 2001 Variance component linkage analysis indicates a QTL for femoral neck bone mineral density on chromosome 1p36. Hum Mol Genet 10:24472452.
  • 71
    Wilson SG, Reed PW, Bansal A, Chiano M, Lindersson M, Langdown M, Prince RL, Thompson D, Thompson E, Bailey M, Kleyn PW, Sambrook P, Shi MM, Spector TD 2003 Comparison of genome screens for two independent cohorts provides replication of suggestive linkage of bone mineral density to 3p21 and 1p36. Am J Hum Genet 72:144155.
  • 72
    Devoto M, Shimoya K, Caminis J, Ott J, Tenenhouse A, Whyte MP, Sereda L, Hall S, Considine E, Williams CJ, Tromp G, Kuivaniemi H, Ala-Kokko L, Prockop DJ, Spotila LD 1998 First-stage autosomal genome screen in extended pedigrees suggests genes predisposing to low bone mineral density on chromosomes 1p, 2p and 4q. Eur J Hum Genet 6:151157.
  • 73
    Deng HW, Xu FH, Huang QY, Shen H, Deng H, Conway T, Liu YJ, Liu YZ, Li JL, Zhang HT, Davies KM, Recker RR 2002 A whole-genome linkage scan suggests several genomic regions potentially containing quantitative trait Loci for osteoporosis. J Clin Endocrinol Metab 87:51515159.
  • 74
    Karasik D, Myers RH, Cupples LA, Hannan MT, Gagnon DR, Herbert A, Kiel DP 2002 Genome screen for quantitative trait loci contributing to normal variation in bone mineral density: The Framingham Study. J Bone Miner Res 17:17181727.
  • 75
    Ferrari S 2004 Genomics and osteoporosis: What are the implications? IBMS Bone Key 2010.1138/ibmske: 20040121.
  • 76
    Halloran BP, Ferguson VL, Simske SJ, Burghardt A, Venton LL, Majumdar S 2002 Changes in bone structure and mass with advancing age in the male C57BL/6J mouse. J Bone Miner Res 17:10441050.
  • 77
    Kopperdahl DL, Pearlman JL, Keaveny TM 2000 Biomechanical consequences of an isolated overload on the human vertebral body. J Orthop Res 18:685690.
  • 78
    Ciarelli TE, Fyhrie DP, Schaffler MB, Goldstein SA 2000 Variations in three-dimensional cancellous bone architecture of the proximal femur in female hip fractures and in controls. J Bone Miner Res 15:3240.
  • 79
    Legrand E, Chappard D, Pascaretti C, Duquenne M, Krebs S, Rohmer V, Basle MF, Audran M 2000 Trabecular bone microarchitecture, bone mineral density, and vertebral fractures in male osteoporosis. J Bone Miner Res 15:1319.
  • 80
    Hordon LD, Raisi M, Aaron JE, Paxton SK, Beneton M, Kanis JA 2000 Trabecular architecture in women and men of similar bone mass with and without vertebral fracture: I. two-dimensional histology. Bone 27:271276.
  • 81
    Aaron JE, Shore PA, Shore RC, Beneton M, Kanis JA 2000 Trabecular architecture in women and men of similar bone mass with and without vertebral fracture: II. three-dimensional histology. Bone 27:277282.
  • 82
    Mann V, Hobson EE, Li B, Stewart TL, Grant SF, Robins SP, Aspden RM, Ralston SH 2001 A COL1A1 Sp1 binding site polymorphism predisposes to osteoporotic fracture by affecting bone density and quality. J Clin Invest 107:899907.
  • 83
    Homminga J, McCreadie BR, Ciarelli TE, Weinans H, Goldstein SA, Huiskes R 2002 Cancellous bone mechanical properties from normals and patients with hip fractures differ on the structure level, not on the bone hard tissue level. Bone 30:759764.