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References

  • Ahlborg, H. G., Johnell, O., Turner, C. H., Rannevik, G. & Karlsson, M. K. (2003) Bone loss and bone size after menopause. N Engl J Med 349, 32734.
  • Amin, S., Zhang, Y., Sawin, C. T., Evans, S. R., Hannan, M. T., Kiel, D. P., Wilson, P. W. & Felson, D. T. (2000) Association of hypogonadism and estradiol levels with bone mineral density in elderly men from the Framingham study. Ann Intern Med 133, 95163.
  • Andrew, T., Antioniades, L., Scurrah, K. J., Macgregor, A. J. & Spector, T. D. (2005) 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 20, 6774.
  • Anonymous (2001) NIH Consensus Development Panel on Osteoporosis Prevention, Diagnosis, and Therapy, March 7-29, 2000: highlights of the conference. South Med J 94, 56973.
  • Anonymous (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447, 66178.
  • Arko, B., Prezelj, J., Komel, R., Kocijancic, A. & Marc, J. (2002) No major effect of estrogen receptor beta gene RsaI polymorphism on bone mineral density and response to alendronate therapy in postmenopausal osteoporosis. J Steroid Biochem Mol Biol 81, 14752.
  • Beamer, W. G., Shultz, K. L., Ackert-Bicknell, C. L., Horton, L. G., Delahunty, K. M., Coombs, H. F., Donahue, L. R., Canalis, E. & Rosen, C. J. (2007) Genetic Dissection of Mouse Distal Chromosome 1 Reveals Three Linked BMD QTL With Sex Dependent Regulation of Bone Phenotypes. J Bone Miner Res.
  • Beamer, W. G., Shultz, K. L., Donahue, L. R., Churchill, G. A., Sen, S., Wergedal, J. R., Baylink, D. J. & Rosen, C. J. (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, 1195206.
  • Beck, T. J., Ruff, C. B., Shaffer, R. A., Betsinger, K., Trone, D. W. & Brodine, S. K. (2000) Stress fracture in military recruits: gender differences in muscle and bone susceptibility factors. Bone 27, 43744.
  • Bilezikian, J. P., Morishima, A., Bell, J. & Grumbach, M. M. (1998) Increased bone mass as a result of estrogen therapy in a man with aromatase deficiency. N Engl J Med 339, 599603.
  • Blangero, J., Williams, J. T. & Almasy, L. (2003) Novel family-based approaches to genetic risk in thrombosis. J Thromb Haemost 1, 13917.
  • Boot, A. M., Van Der Sluis, I. M., De Muinck Keizer-Schrama, S. M., Van Meurs, J. B., Krenning, E. P., Pols, H. A. & Uitterlinden, A. G. (2004) Estrogen receptor alpha gene polymorphisms and bone mineral density in healthy children and young adults. Calcif Tissue Int 74, 495500.
  • Bouxsein, M. L., Rosen, C. J., Turner, C. H., Ackert, C. L., Shultz, K. L., Donahue, L. R., Churchill, G., Adamo, M. L., Powell, D. R., Turner, R. T., Muller, R. & Beamer, W. G. (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, 5709.
  • Bouxsein, M. L., Uchiyama, T., Rosen, C. J., Shultz, K. L., Donahue, L. R., Turner, C. H., Sen, S., Churchill, G. A., Muller, R. & Beamer, W. G. (2004) Mapping quantitative trait loci for vertebral trabecular bone volume fraction and microarchitecture in mice. J Bone Miner Res 19, 58799.
  • Boyden, L. M., Mao, J., Belsky, J., Mitzner, L., Farhi, A., Mitnick, M. A., Wu, D., Insogna, K. & Lifton, R. P. (2002) High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med 346, 151321.
  • Brown, L. B., Streeten, E. A., Shuldiner, A. R., Almasy, L. A., Peyser, P. A. & Mitchell, B. D. (2004) Assessment of sex-specific genetic and environmental effects on bone mineral density. Genet Epidemiol 27, 15361.
  • Burge, R., Dawson-Hughes, B., Solomon, D. H., Wong, J. B., King, A. & Tosteson, A. (2007) Incidence and economic burden of osteoporosis-related fractures in the United States, 2005-2025. J Bone Miner Res 22, 46575.
  • Chevalley, T., Rizzoli, R., Hans, D., Ferrari, S. & Bonjour, J. P. (2005) Interaction between calcium intake and menarcheal age on bone mass gain: an eight-year follow-up study from prepuberty to postmenarche. J Clin Endocrinol Metab 90, 4451.
  • Conrad, D. F. & Hurles, M. E. (2007) The population genetics of structural variation. Nat Genet 39, S306.
  • Corsi, K. A., Pollett, J. B., Phillippi, J. A., Usas, A., Li, G. & Huard, J. (2007) Osteogenic potential of postnatal skeletal muscle-derived stem cells is influenced by donor sex. J Bone Miner Res 22, 1592602.
  • Craig, I. W., Harper, E. & Loat, C. S. (2004) The genetic basis for sex differences in human behaviour: role of the sex chromosomes. Ann Hum Genet 68, 26984.
  • Cummings, S. R., Browner, W. S., Bauer, D., Stone, K., Ensrud, K., Jamal, S. & Ettinger, B. (1998) Endogenous hormones and the risk of hip and vertebral fractures among older women. Study of Osteoporotic Fractures Research Group [see comments]. N Engl J Med 339, 7338.
  • Cummings, S. R. & Melton, L. J. (2002) Epidemiology and outcomes of osteoporotic fractures. Lancet 359, 17617.
  • Demissie, S., Dupuis, J., Cupples, L. A., Beck, T. J., Kiel, D. P. & Karasik, D. (2007) Proximal hip geometry is linked to several chromosomal regions: Genome-wide linkage results from the Framingham Osteoporosis Study. Bone 40, 74350.
  • Deng, H. W., Chen, W. M., Recker, S., Stegman, M. R., Li, J. L., Davies, K. M., Zhou, Y., Deng, H., Heaney, R. & Recker, R. R. (2000) Genetic determination of Colles' fracture and differential bone mass in women with and without Colles' fracture. J Bone Miner Res 15, 124352.
  • Deng, H. W., Livshits, G., Yakovenko, K., Xu, F. H., Conway, T., Davies, K. M., Deng, H. & Recker, R. R. (2002a) Evidence for a major gene for bone mineral density/content in human pedigrees identified via probands with extreme bone mineral density. Ann Hum Genet 66, 6174.
  • Deng, H. W., Mahaney, M. C., Williams, J. T., Li, J., Conway, T., Davies, K. M., Li, J. L., Deng, H. & Recker, R. R. (2002b) Relevance of the genes for bone mass variation to susceptibility to osteoporotic fractures and its implications to gene search for complex human diseases. Genet Epidemiol 22, 1225.
  • Devoto, M., Specchia, C., Li, H., Caminis, J., Tenenhouse, A., Rodriguez, H. & Spotila, L. (2001) Variance component linkage analysis indicates a QTL for femoral neck bone mineral density on chromosome 1p36. Human Molecular Genetics 10, 24472452.
  • Duan, Y., Beck, T. J., Wang, X. F. & Seeman, E. (2003) Structural and biomechanical basis of sexual dimorphism in femoral neck fragility has its origins in growth and aging. J Bone Miner Res 18, 176674.
  • Duncan, E. L., Brown, M. A., Sinsheimer, J., Bell, J., Carr, A. J., Wordsworth, B. P. & Wass, J. A. (1999) Suggestive linkage of the parathyroid receptor type 1 to osteoporosis [see comments]. J Bone Miner Res 14, 19939.
  • Edderkaoui, B., Baylink, D. J., Beamer, W. G., Shultz, K. L., Wergedal, J. E. & Mohan, S. (2007) Genetic regulation of femoral bone mineral density: complexity of sex effect in chromosome 1 revealed by congenic sublines of mice. Bone 41, 3405.
  • Feik, S. A., Thomas, C. D., Bruns, R. & Clement, J. G. (2000) Regional variations in cortical modeling in the femoral mid-shaft: sex and age differences. Am J Phys Anthropol 112, 191205.
  • Ferrari, S. (2005) Osteoporosis: A Complex Disorder of Aging with Multiple Genetic and Environmental Determinants. in Simopoulos, A. (Ed.) Nutrition and Fitness: Mental Health, Aging, and the Implementation of a Healthy Diet and Physical Activity Lifestyle. Basel , Karger.
  • Ferrari, S. L., Ahn-Luong, L., Garnero, P., Humphries, S. E. & Greenspan, S. L. (2003) Two promoter polymorphisms regulating interleukin-6 gene expression are associated with circulating levels of C-reactive protein and markers of bone resorption in postmenopausal women. J Clin Endocrinol Metab 88, 2559.
  • Ferrari, S. L., Deutsch, S., Baudoin, C., Cohen-Solal, M., Ostertag, A., Antonarakis, S. E., Rizzoli, R. & De Vernejoul, M. C. (2005) LRP5 gene polymorphisms and idiopathic osteoporosis in men. Bone 37, 7705.
  • Ferrari, S. L., Deutsch, S., Choudhury, U., Chevalley, T., Bonjour, J. P., Dermitzakis, E. T., Rizzoli, R. & Antonarakis, S. E. (2004a) Polymorphisms in the Low-Density Lipoprotein Receptor-Related Protein 5 (LRP5) Gene Are Associated with Variation in Vertebral Bone Mass, Vertebral Bone Size, and Stature in Whites. Am J Hum Genet 74, 86675.
  • Ferrari, S. L., Karasik, D., Liu, J., Karamohamed, S., Herbert, A. G., Cupples, L. A. & Kiel, D. P. (2004b) Interactions of interleukin-6 promoter polymorphisms with dietary and lifestyle factors and their association with bone mass in men and women from the framingham osteoporosis study. J Bone Miner Res 19, 5529.
  • Fishman, D., Faulds, G., Jeffery, R., Mohamed-Ali, V., Yudkin, J. S., Humphries, S. & Woo, P. (1998) The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. J Clin Invest 102, 136976.
  • Gennari, L., Merlotti, D., De Paola, V., Calabro, A., Becherini, L., Martini, G. & Nuti, R. (2005) Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a HuGE review. Am J Epidemiol 161, 30720.
  • Glatt, V., Canalis, E. & Lisa Stadmeyer2, L. S. O. M. L. B. (2007) Age-Related Changes in Trabecular Architecture Differ in Female and Male C57BL/6J Mice. J Bone Miner Res.
  • Gong, Y., Slee, R. B., Fukai, N., Rawadi, G., Roman-Roman, S., Reginato, A. M., Wang, H., Cundy, T., Glorieux, F. H., Lev, D., Zacharin, M., Oexle, K., Marcelino, J., Suwairi, W., Heeger, S., Sabatakos, G., Apte, S., Adkins, W. N., Allgrove, J., Arslan-Kirchner, M., Batch, J. A., Beighton, P., Black, G. C., Boles, R. G., Boon, L. M., Borrone, C., Brunner, H. G., Carle, G. F., Dallapiccola, B., De Paepe, A., Floege, B., Halfhide, M. L., Hall, B., Hennekam, R. C., Hirose, T., Jans, A., Juppner, H., Kim, C. A., Keppler-Noreuil, K., Kohlschuetter, A., Lacombe, D., Lambert, M., Lemyre, E., Letteboer, T., Peltonen, L., Ramesar, R. S., Romanengo, M., Somer, H., Steichen-Gersdorf, E., Steinmann, B., Sullivan, B., Superti-Furga, A., Swoboda, W., Van Den Boogaard, M. J., Van Hul, W., Vikkula, M., Votruba, M., Zabel, B., Garcia, T., Baron, R., Olsen, B. R. & Warman, M. L. (2001) LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107, 51323.
  • Hamanaka, Y., Yamamoto, I., Takada, M., Matsushita, R., Ota, T., Yuh, I. & Morita, R. (1999) Comparison of bone mineral density at various skeletal sites with quantitative ultrasound parameters of the calcaneus for assessment of vertebral fractures. J Bone Miner Metab 17, 195200. http://projects.tcag.ca/variation/.
  • Ioannidis, J. P., Ng, M. Y., Sham, P. C., Zintzaras, E., Lewis, C. M., Deng, H. W., Econs, M. J., Karasik, D., Devoto, M., Kammerer, C. M., Spector, T., Andrew, T., Cupples, L. A., Duncan, E. L., Foroud, T., Kiel, D. P., Koller, D., Langdahl, B., Mitchell, B. D., Peacock, M., Recker, R., Shen, H., Sol-Church, K., Spotila, L. D., Uitterlinden, A. G., Wilson, S. G., Kung, A. W. & Ralston, S. H. (2007) Meta-analysis of genome-wide scans provides evidence for sex- and site-specific regulation of bone mass. J Bone Miner Res 22, 17383.
  • Ioannidis, J. P., Ralston, S. H., Bennett, S. T., Brandi, M. L., Grinberg, D., Karassa, F. B., Langdahl, B., Van Meurs, J. B., Mosekilde, L., Scollen, S., Albagha, O. M., Bustamante, M., Carey, A. H., Dunning, A. M., Enjuanes, A., Van Leeuwen, J. P., Mavilia, C., Masi, L., Mcguigan, F. E., Nogues, X., Pols, H. A., Reid, D. M., Schuit, S. C., Sherlock, R. E. & Uitterlinden, A. G. (2004) Differential genetic effects of ESR1 gene polymorphisms on osteoporosis outcomes. JAMA 292, 210514.
  • Ioannidis, J. P., Stavrou, I., Trikalinos, T. A., Zois, C., Brandi, M. L., Gennari, L., Albagha, O., Ralston, S. H. & Tsatsoulis, A. (2002) Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density and fracture risk in women: a meta-analysis. J Bone Miner Res 17, 204860.
  • Ishida, Y. & Heersche, J. N. (1997) Progesterone stimulates proliferation and differentiation of osteoprogenitor cells in bone cell populations derived from adult female but not from adult male rats. Bone 20, 1725.
  • Iwaniec, U. T., Wronski, T. J., Liu, J., Rivera, M. F., Arzaga, R. R., Hansen, G. & Brommage, R. (2007) PTH stimulates bone formation in mice deficient in Lrp5. J Bone Miner Res 22, 394402.
  • Kammerer, C., Schneider, J., Cole, S., Hixson, J., Samollow, P., O'Connell, J., Perez, R., Dyer, T., Almasy, L., Blangero, J., Bauer, R. & Mitchell, B. (2003) Quantitative trait loci on chromosomes 2p, 4p, and 13q influence bone mineral density of the forearm and hip in Mexican Americans. J Bone Min Res 18, 22452252.
  • Kanis, J. A., Oden, A., Johnell, O., De Laet, C. & Jonsson, B. (2004) Excess mortality after hospitalisation for vertebral fracture. Osteoporos Int 15, 10812.
  • Kanis, J. A., Stevenson, M., Mccloskey, E. V., Davis, S. & Lloyd-Jones, M. (2007) Glucocorticoid-induced osteoporosis: a systematic review and cost-utility analysis. Health Technol Assess 11, iii-iv, ix-xi, 1231.
  • Kaptoge, S., Dalzell, N., Loveridge, N., Beck, T. J., Khaw, K. T. & Reeve, J. (2003) Effects of gender, anthropometric variables, and aging on the evolution of hip strength in men and women aged over 65. Bone 32, 56170.
  • Karasik, D., Arensburg, B., Tillier, A.-M. & Pavlovsky, O. (1998) Skeletal age assessment of fossil hominids. J. Archaeol. Sciences 25, 689696.
  • Karasik, D., Cupples, L. A., Hannan, M. T. & Kiel, D. P. (2003) Age, gender, and body mass effects on quantitative trait loci for bone mineral density: the Framingham study. Bone 33, 30816.
  • Karasik, D., Myers, R. H., Cupples, L. A., Hannan, M. T., Gagnon, D. R., Herbert, A. & Kiel, D. P. (2002) Genome screen for quantitative trait loci contributing to normal variation in bone mineral density: the Framingham Study. J Bone Miner Res 17, 171827.
  • Kesavan, C., Mohan, S., Srivastava, A. K., Kapoor, S., Wergedal, J. E., Yu, H. & Baylink, D. J. (2006) Identification of genetic loci that regulate bone adaptive response to mechanical loading in C57BL/6J and C3H/HeJ mice intercross. Bone 39, 63443.
  • Khosla, S., Melton, L. J., 3rd, Dekutoski, M. B., Achenbach, S. J., Oberg, A. L. & Riggs, B. L. (2003) Incidence of childhood distal forearm fractures over 30 years: a population-based study. JAMA 290, 147985.
  • Khosla, S., Melton, L. J., 3rd, Robb, R. A., Camp, J. J., Atkinson, E. J., Oberg, A. L., Rouleau, P. A. & Riggs, B. L. (2005) Relationship of volumetric BMD and structural parameters at different skeletal sites to sex steroid levels in men. J Bone Miner Res 20, 73040.
  • Khosla, S., Riggs, B. L., Atkinson, E. J., Oberg, A. L., Mavilia, C., Del Monte, F., Melton, L. J., 3rd & Brandi, M. L. (2004) Relationship of estrogen receptor genotypes to bone mineral density and to rates of bone loss in men. J Clin Endocrinol Metab 89, 180816.
  • Khosla, S., Riggs, B. L., Atkinson, E. J., Oberg, A. L., Mcdaniel, L. J., Holets, M., Peterson, J. M. & Melton, L. J., 3rd (2006) Effects of sex and age on bone microstructure at the ultradistal radius: a population-based noninvasive in vivo assessment. J Bone Miner Res 21, 12431.
  • Kiel, D. P., Ferrari, S. L., Cupples, L. A., Karasik, D., Manen, D., Imamovic, A., Herbert, A. G. & Dupuis, J. (2007) Genetic variation at the low-density lipoprotein receptor-related protein 5 (LRP5) locus modulates Wnt signaling and the relationship of physical activity with bone mineral density in men. Bone 40, 58796.
  • Klein, R. F., Turner, R. J., Skinner, L. D., Vartanian, K. A., Serang, M., Carlos, A. S., Shea, M., Belknap, J. K. & Orwoll, E. S. (2002) Mapping quantitative trait loci that influence femoral cross-sectional area in mice. J Bone Miner Res 17, 175260.
  • Koh, J. M., Kim, D. J., Hong, J. S., Park, J. Y., Lee, K. U., Kim, S. Y. & Kim, G. S. (2002) Estrogen receptor alpha gene polymorphisms Pvu II and Xba I influence association between leptin receptor gene polymorphism (Gln223Arg) and bone mineral density in young men. Eur J Endocrinol 147, 77783.
  • Lakatos, P., Foldes J, Nagy Z, Takacs I, Speer G, Horvath C, Mohan S, Baylink D J, Stern P H (2000) Serum insulin-like growth factor-I, insulin-like growth factor binding proteins, and bone mineral content in hyperthyroidism. Thyroid 10, 417423.
  • Lang, D. H., Sharkey, N. A., Mack, H. A., Vogler, G. P., Vandenbergh, D. J., Blizard, D. A., Stout, J. T. & Mcclearn, G. E. (2005) Quantitative Trait Loci Analysis of Structural and Material Skeletal Phenotypes in C57BL/6J and DBA/2 Second-Generation and Recombinant Inbred Mice. J Bone Miner Res 20, 8899.
  • Langdahl, B. L., Lokke, E., Carstens, M., Stenkjaer, L. L. & Eriksen, E. F. (2000) A TA repeat polymorphism in the estrogen receptor gene is associated with osteoporotic fractures but polymorphisms in the first exon and intron are not. J Bone Miner Res 15, 222230.
  • Langdahl, B. L., Uitterlinden, A. G. & Ralston, S. H. (2008) Large-scale analysis of association between polymorphisms in the Transforming Growth Factor Beta 1 gene (TGFB1) and osteoporosis: The GENOMOS Study. Bone 42, 96981.
  • Lau, H. H., Ho, A. Y., Luk, K. D. & Kung, A. W. (2002) Estrogen receptor beta gene polymorphisms are associated with higher bone mineral density in premenopausal, but not postmenopausal southern Chinese women. Bone 31, 27681.
  • Lazenby, R. A. (2002) Prediction of cross-sectional geometry from metacarpal radiogrammetry: a validation study. Am J Human Biol 14, 7480.
  • Little, R. D., Carulli, J. P., Del Mastro, R. G., Dupuis, J., Osborne, M., Folz, C., Manning, S. P., Swain, P. M., Zhao, S. C., Eustace, B., Lappe, M. M., Spitzer, L., Zweier, S., Braunschweiger, K., Benchekroun, Y., Hu, X., Adair, R., Chee, L., Fitzgerald, M. G., Tulig, C., Caruso, A., Tzellas, N., Bawa, A., Franklin, B., Mcguire, S., Nogues, X., Gong, G., Allen, K. M., Anisowicz, A., Morales, A. J., Lomedico, P. T., Recker, S. M., Van Eerdewegh, P., Recker, R. R. & Johnson, M. L. (2002) A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. Am J Hum Genet 70, 119.
  • Liu, Y. J., Shen, H., Xiao, P., Xiong, D. H., Li, L. H., Recker, R. R. & Deng, H. W. (2006) Molecular genetic studies of gene identification for osteoporosis: a 2004 update. J Bone Miner Res 21, 151135.
  • Long, J. R., Zhang, Y. Y., Liu, P. Y., Liu, Y. J., Shen, H., Dvornyk, V., Zhao, L. J. & Deng, H. W. (2004) Association of estrogen receptor alpha and vitamin D receptor gene polymorphisms with bone mineral density in Chinese males. Calcif Tissue Int 74, 2706.
  • Looker, A., Beck, T. & Orwoll, E. (2001) Does body size account for gender differences in femur bone density and geometry? Journal Bone Mineral Research 16, 12911299.
  • Lovejoy, C. O., Meindl, R. S., Mensforth, R. P. & Barton, T. J. (1985) Multifactorial determination of skeletal age at death: a method and blind tests of its accuracy. Am J Phys Anthropol 68, 114.
  • Ma, D., Morley, R. & Jones, G. (2004) Risk-taking, coordination and upper limb fractures in children: a population based case-control study. Osteoporos Int 15, 6338.
  • Manolagas, S. C. & Jilka, R. L. (1995) Bone marrow, cytokines, and bone remodeling. Emerging insights into the pathophysiology of osteoporosis. N Engl J Med 332, 30511.
  • Masinde, G. L., Wergedal, J., Davidson, H., Mohan, S., Li, R., Li, X. & Baylink, D. J. (2003) Quantitative trait loci for periosteal circumference (PC): identification of single loci and epistatic effects in F2 MRL/SJL mice. Bone 32, 55460.
  • Mellstrom, D., Johnell, O., Ljunggren, O., Eriksson, A. L., Lorentzon, M., Mallmin, H., Holmberg, A., Redlund-Johnell, I., Orwoll, E. & Ohlsson, C. (2006) Free testosterone is an independent predictor of BMD and prevalent fractures in elderly men: MrOS Sweden. J Bone Miner Res 21, 52935.
  • Melton, L. J., 3rd, Atkinson, E. J., O'Connor, M. K., O'Fallon, W. M. & Riggs, B. L. (2000) Determinants of bone loss from the femoral neck in women of different ages. J Bone Miner Res 15, 2431.
  • Michaelsson, K., Melhus, H., Ferm, H., Ahlbom, A. & Pedersen, N. L. (2005) Genetic liability to fractures in the elderly. Arch Intern Med 165, 182530.
  • Moffett, S. P., Zmuda, J. M., Cauley, J. A., Stone, K. L., Nevitt, M. C., Ensrud, K. E., Hillier, T. A., Hochberg, M. C., Joslyn, G., Morin, P. & Cummings, S. R. (2004) Association of the G-174C variant in the interleukin-6 promoter region with bone loss and fracture risk in older women. J Bone Miner Res 19, 16128.
  • Moron, F. J., Mendoza, N., Vazquez, F., Molero, E., Quereda, F., Salinas, A., Fontes, J., Martinez-Astorquiza, T., Sanchez-Borrego, R. & Ruiz, A. (2006) Multilocus analysis of estrogen-related genes in Spanish postmenopausal women suggests an interactive role of ESR1, ESR2 and NRIP1 genes in the pathogenesis of osteoporosis. Bone 39, 21321.
  • Murray, R. E., Mcguigan, F., Grant, S. F., Reid, D. M. & Ralston, S. H. (1997) Polymorphisms of the interleukin-6 gene are associated with bone mineral density. Bone 21, 8992.
  • Naganathan, V., Macgregor, A., Snieder, H., Nguyen, T., Spector, T. & Sambrook, P. (2002) Gender Differences in the Genetic Factors Responsible for Variation in Bone Density and Ultrasound. J Bone Mineral Research 17, 725733.
  • Ng, M. Y., Sham, P. C., Paterson, A. D., Chan, V. & Kung, A. W. (2006) Effect of environmental factors and gender on the heritability of bone mineral density and bone size. Ann Hum Genet 70, 42838.
  • Nieves, J. W., Formica, C., Ruffing, J., Zion, M., Garrett, P., Lindsay, R. & Cosman, F. (2005) Males have larger skeletal size and bone mass than females, despite comparable body size. J Bone Miner Res 20, 52935.
  • Nordstrom, A., Gerdhem, P., Brandstrom, H., Stiger, F., Lerner, U. H., Lorentzon, M., Obrant, K., Nordstrom, P. & Akesson, K. (2004) Interleukin-6 promoter polymorphism is associated with bone quality assessed by calcaneus ultrasound and previous fractures in a cohort of 75-year-old women. Osteoporos Int 15, 8206.
  • Ogawa, S., Hosoi, T., Shiraki, M., Orimo, H., Emi, M., Muramatsu, M., Ouchi, Y. & Inoue, S. (2000) Association of estrogen receptor beta gene polymorphism with bone mineral density. Biochem Biophys Res Commun 269, 53741.
  • Orwoll, E., Ettinger, M., Weiss, S., Miller, P., Kendler, D., Graham, J., Adami, S., Weber, K., Lorenc, R., Pietschmann, P., Vandormael, K. & Lombardi, A. (2000) Alendronate for the treatment of osteoporosis in men. N Engl J Med 343, 60410.
  • Orwoll, E. S., Belknap, J. K. & Klein, R. F. (2001) Gender specificity in the genetic determinants of peak bone mass. J. Bone Miner. Res. 16, 19621971.
  • Parsons, C. A., Mroczkowski, H. J., Mcguigan, F. E., Albagha, O. M., Manolagas, S., Reid, D. M., Ralston, S. H. & Shmookler Reis, R. J. (2005) Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22. Hum Mol Genet 14, 31418.
  • Patsopoulos, N. A., Tatsioni, A. & Ioannidis, J. P. (2007) Claims of sex differences: an empirical assessment in genetic associations. Jama 298, 88093.
  • Peacock, M., Koller, D. L., Fishburn, T., Krishnan, S., Lai, D., Hui, S., Johnston, C. C., Foroud, T. & Econs, M. J. (2005a) Sex-specific and non-sex-specific quantitative trait loci contribute to normal variation in bone mineral density in men. J Clin Endocrinol Metab 90, 30606.
  • Peacock, M., Koller, D. L., Hui, S., Johnston, C. C., Foroud, T. & Econs, M. J. (2004) Peak bone mineral density at the hip is linked to chromosomes 14q and 15q. Osteoporos Int 15, 48996.
  • Peacock, M., Koller, D. L., Lai, D., Hui, S., Foroud, T. & Econs, M. J. (2005b) Sex-specific quantitative trait loci contribute to normal variation in bone structure at the proximal femur in men. Bone 37, 46773.
  • Peacock, M., Turner, C. H., Econs, M. J. & Foroud, T. (2002) Genetics of osteoporosis. Endocr Rev 23, 30326.
  • Pennisi, P., Chevalley, T., Manen, D., Herrmann, F., Brandi, M. L., Rizzoli, R. & Ferrari, S. L. (2005) Genetic Variation in Estrogen Receptor Alpha and Interleukin-6 is Associated with Bone Mass Acquisition in Prepubertal Girls and Boys: Interaction with Calcium Supplements. J Bone Min Res 20 suppl. 1, S343.
  • Ralston, S. H. & De Crombrugghe, B. (2006) Genetic regulation of bone mass and susceptibility to osteoporosis. Genes Dev 20, 2492506.
  • Ralston, S. H., Galwey, N., Mackay, I., Albagha, O. M., Cardon, L., Compston, J. E., Cooper, C., Duncan, E., Keen, R., Langdahl, B., Mclellan, A., O'Riordan, J., Pols, H. A., Reid, D. M., Uitterlinden, A. G., Wass, J. & Bennett, S. T. (2005) Loci for regulation of bone mineral density in men and women identified by genome wide linkage scan: the FAMOS study. Hum Mol Genet 14, 94351.
  • Ralston, S. H., Uitterlinden, A. G., Brandi, M. L., Balcells, S., Langdahl, B. L., Lips, P., Lorenc, R., Obermayer-Pietsch, B., Scollen, S., Bustamante, M., Husted, L. B., Carey, A. H., Diez-Perez, A., Dunning, A. M., Falchetti, A., Karczmarewicz, E., Kruk, M., Van Leeuwen, J. P., Van Meurs, J. B., Mangion, J., Mcguigan, F. E., Mellibovsky, L., Del Monte, F., Pols, H. A., Reeve, J., Reid, D. M., Renner, W., Rivadeneira, F., Van Schoor, N. M., Sherlock, R. E. & Ioannidis, J. P. (2006) Large-scale evidence for the effect of the COLIA1 Sp1 polymorphism on osteoporosis outcomes: the GENOMOS study. PLoS Med 3, e90.
  • Riggs, B. L., Khosla, S. & Melton, L. J. (1998) A unitary model for involutional osteoporosis: estrogen deficiency causes both type I and type II osteoporosis in postmenopausal women and contributes to bone loss in aging men. J Bone Miner Res 13, 763773.
  • Rivadeneira, F., Van Meurs, J. B., Kant, J., Zillikens, M. C., Stolk, L., Beck, T. J., Arp, P., Schuit, S. C., Hofman, A., Houwing-Duistermaat, J. J., Van Duijn, C. M., Van Leeuwen, J. P., Pols, H. A. & Uitterlinden, A. G. (2006) Estrogen receptor beta (ESR2) polymorphisms in interaction with estrogen receptor alpha (ESR1) and insulin-like growth factor I (IGF1) variants influence the risk of fracture in postmenopausal women. J Bone Miner Res 21, 144356.
  • Rizzoli, R. & Bonjour, J. P. (1997) Hormones and bones. Lancet 349 Suppl 1, sI203.
  • Robling, A. G., Warden, S. J., Shultz, K. L., Beamer, W. G. & Turner, C. H. (2007) Genetic Effects on Bone Mechanotransduction in Congenic Mice Harboring Bone Size and Strength Quantitative Trait Loci. J Bone Miner Res.
  • Rosen, C. J., Beamer, W. G. & Donahue, L. R. (2001) Defining the genetics of osteoporosis: using the mouse to understand man. Osteoporos Int 12, 80310.
  • Scariano, J. K., Simplicio, S. G., Montoya, G. D., Garry, P. J. & Baumgartner, R. N. (2004) Estrogen receptor beta dinucleotide (CA) repeat polymorphism is significantly associated with bone mineral density in postmenopausal women. Calcif Tissue Int 74, 5018.
  • Seeman, E. (2002) Pathogenesis of bone fragility in women and men. Lancet 359, 184150.
  • Seeman, E. (2003) Invited Review: Pathogenesis of osteoporosis. J Appl Physiol 95, 214251.
  • Shearman, A. M., Karasik, D., Gruenthal, K. M., Demissie, S., Cupples, L. A., Housman, D. E. & Kiel, D. P. (2004) Estrogen receptor Beta polymorphisms are associated with bone mass in women and men: the Framingham study. J Bone Miner Res 19, 77381.
    Direct Link:
  • Shen, H., Liu, Y., Liu, P., Recker, R. R. & Deng, H. W. (2005a) Nonreplication in genetic studies of complex diseases–lessons learned from studies of osteoporosis and tentative remedies. J Bone Miner Res 20, 36576.
  • Shen, H., Long, J. R., Xiong, D. H., Liu, Y. J., Liu, Y. Z., Xiao, P., Zhao, L. J., Dvornyk, V., Zhang, Y. Y., Rocha-Sanchez, S., Liu, P. Y., Li, J. L. & Deng, H. W. (2005b) Mapping quantitative trait loci for cross-sectional geometry at the femoral neck. J Bone Miner Res 20, 197382.
  • Sievänen, H. (2005) Hormonal influences on the muscle-bone feedback system: a perspective. J Musculoskelet Neuronal Interact 5, 25561.
  • Slemenda, C. W., Christian, J. C., Williams, C. J., Norton, J. A. & Johnston, C. C., Jr. (1991) Genetic determinants of bone mass in adult women: a reevaluation of the twin model and the potential importance of gene interaction on heritability estimates. J Bone Miner Res 6, 5617.
  • Smith, E. P., Boyd, J., Frank, G. R., Takahashi, H., Cohen, R. M., Specker, B., Williams, T. C., Lubahn, D. B. & Korach, K. S. (1994) Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. N Engl J Med 331, 105661.
  • Streeten, E. A., Mcbride, D. J., Pollin, T. I., Ryan, K., Shapiro, J., Ott, S., Mitchell, B. D., Shuldiner, A. R. & O'Connell, J. R. (2006) Quantitative trait loci for BMD identified by autosome-wide linkage scan to chromosomes 7q and 21q in men from the Amish Family Osteoporosis Study. J Bone Miner Res 21, 143342
  • Szumska, D., Benes, H., Kang, P., Weinstein, R. S., Jilka, R. L., Manolagas, S. C. & Shmookler Reis, R. J. (2006) A novel locus on the X chromosome regulates post-maturity bone density changes in mice. Bone.
  • Terry, C. F., Loukaci, V. & Green, F. R. (2000) Cooperative Influence of Genetic Polymorphisms on Interleukin 6 Transcriptional Regulation. J Biol Chem 275, 1813818144.
  • Tosi, L. L., Boyan, B. D. & Boskey, A. L. (2005) Does sex matter in musculoskeletal health? The influence of sex and gender on musculoskeletal health. J Bone Joint Surg Am 87, 163147.
  • Towne, B., Siervogel, R. M. & Blangero, J. (1997) Effects of genotype-by-sex interaction on quantitative trait linkage analysis. Genet Epidemiol 14, 10538.
  • Tsukamoto, K., Yoshida, H., Watanabe, S., Suzuki, T., Miyao, M., Hosoi, T., Orimo, H. & Emi, M. (1999) Association of radial bone mineral density with CA repeat polymorphism at the interleukin 6 locus in postmenopausal Japanese women. J Hum Genet 44, 14851.
  • Turner, C. H., Sun, Q., Schriefer, J., Pitner, N., Price, R., Bouxsein, M. L., Rosen, C. J., Donahue, L. R., Shultz, K. L. & Beamer, W. G. (2003) Congenic mice reveal sex-specific genetic regulation of femoral structure and strength. Calcif Tissue Int 73, 297303.
  • Uitterlinden, A. G., Ralston, S. H., Brandi, M. L., Carey, A. H., Grinberg, D., Langdahl, B. L., Lips, P., Lorenc, R., Obermayer-Pietsch, B., Reeve, J., Reid, D. M., Amedei, A., Bassiti, A., Bustamante, M., Husted, L. B., Diez-Perez, A., Dobnig, H., Dunning, A. M., Enjuanes, A., Fahrleitner-Pammer, A., Fang, Y., Karczmarewicz, E., Kruk, M., Van Leeuwen, J. P., Mavilia, C., Van Meurs, J. B., Mangion, J., Mcguigan, F. E., Pols, H. A., Renner, W., Rivadeneira, F., Van Schoor, N. M., Scollen, S., Sherlock, R. E. & Ioannidis, J. P. (2006) The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis. Ann Intern Med 145, 25564.
  • Van Meurs, J. B., Rivadeneira, F., Jhamai, M., Hugens, W., Hofman, A., Van Leeuwen, J. P., Pols, H. A. & Uitterlinden, A. G. (2006) Common genetic variation of the low-density lipoprotein receptor-related protein 5 and 6 genes determines fracture risk in elderly white men. J Bone Miner Res 21, 14150.
  • Van Meurs, J. B., Schuit, S. C., Weel, A. E., Van Der Klift, M., Bergink, A. P., Arp, P. P., Colin, E. M., Fang, Y., Hofman, A., Van Duijn, C. M., Van Leeuwen, J. P., Pols, H. A. & Uitterlinden, A. G. (2003) Association of 5' estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk. Hum Mol Genet 12, 174554.
  • Van Meurs, J. B., Trikalinos, T., Ralston, S. H. & Genomos, C. (2008) Large-scale analysis of association between polymorphisms in the LRP-5 and -6 genes and osteoporosis: The GENOMOS Study. JAMA 299, 127790.
  • Van Pottelbergh, I., Lumbroso, S., Goemaere, S., Sultan, C. & Kaufman, J. M. (2001) Lack of influence of the androgen receptor gene CAG-repeat polymorphism on sex steroid status and bone metabolism in elderly men. Clin Endocrinol (Oxf) 55, 65966.
  • Van Wesenbeeck, L., Cleiren, E., Gram, J., Beals, R. K., Benichou, O., Scopelliti, D., Key, L., Renton, T., Bartels, C., Gong, Y., Warman, M. L., De Vernejoul, M. C., Bollerslev, J. & Van Hul, W. (2003) Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet 72, 76371.
  • Wallace, J. M., Rajachar, R. M., Chen, X. D., Shi, S., Allen, M. R., Bloomfield, S. A., Les, C. M., Robey, P. G., Young, M. F. & Kohn, D. H. (2006) The mechanical phenotype of biglycan-deficient mice is bone- and gender-specific. Bone 39, 10616.
  • Weiss, L. A., Pan, L., Abney, M. & Ober, C. (2006) The sex-specific genetic architecture of quantitative traits in humans. Nat Genet 38, 21822.
  • Willing, M. C., Torner, J. C., Burns, T. L., Janz, K. F., Marshall, T., Gilmore, J., Deschenes, S. P., Warren, J. J. & Levy, S. M. (2003) Gene polymorphisms, bone mineral density and bone mineral content in young children: the Iowa Bone Development Study. Osteoporos Int 14, 6508.
  • Wilson, S. G., Reed, P. W., Bansal, A., Chiano, M., Lindersson, M., Langdown, M., Prince, R. L., Thompson, D., Thompson, E., Bailey, M., Kleyn, P. W., Sambrook, P., Shi, M. M. & Spector, T. D. (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, 14455.
  • Windahl, S. H., Galien, R., Chiusaroli, R., Clement-Lacroix, P., Morvan, F., Lepescheux, L., Nique, F., Horne, W. C., Resche-Rigon, M. & Baron, R. (2006) Bone protection by estrens occurs through non-tissue-selective activation of the androgen receptor. J Clin Invest 116, 25009.
  • Xiao, P., Shen, H., Guo, Y. F., Xiong, D. H., Liu, Y. Z., Liu, Y. J., Zhao, L. J., Long, J. R., Guo, Y., Recker, R. R. & Deng, H. W. (2006) Genomic regions identified for BMD in a large sample including epistatic interactions and gender-specific effects. J Bone Miner Res 21, 153644.
  • Xiong, D. H., Lei, S. F., Yang, F., Wang, L., Peng, Y. M., Wang, W., Recker, R. R. & Deng, H. W. (2007) Low-density lipoprotein receptor-related protein 5 (LRP5) gene polymorphisms are associated with bone mass in both Chinese and whites. J Bone Miner Res 22, 38593.
  • Xiong, D. H., Shen, H., Xiao, P., Guo, Y. F., Long, J. R., Zhao, L. J., Liu, Y. Z., Deng, H. Y., Li, J. L., Recker, R. R. & Deng, H. W. (2006) Genome-wide scan identified QTLs underlying femoral neck cross-sectional geometry that are novel studied risk factors of osteoporosis. J Bone Miner Res 21, 42437.
  • Yamada, Y., Ando, F., Niino, N. & Shimokata, H. (2003) Association of polymorphisms of interleukin-6, osteocalcin, and vitamin D receptor genes, alone or in combination, with bone mineral density in community-dwelling Japanese women and men. J Clin Endocrinol Metab 88, 33728.
  • Yang, T. L., Zhao, L. J., Liu, Y. J., Liu, J. F., Recker, R. R. & Deng, H. W. (2006) Genetic and environmental correlations of bone mineral density at different skeletal sites in females and males. Calcif Tissue Int 78, 2127.
  • Zinn, A. R., Ramos, P., Elder, F. F., Kowal, K., Samango-Sprouse, C. & Ross, J. L. (2005) Androgen receptor CAGn repeat length influences phenotype of 47,XXY (Klinefelter) syndrome. J Clin Endocrinol Metab 90, 50416.
  • Zitzmann, M., Brune, M., Kornmann, B., Gromoll, J., Junker, R. & Nieschlag, E. (2001) The CAG repeat polymorphism in the androgen receptor gene affects bone density and bone metabolism in healthy males. Clin Endocrinol (Oxf) 55, 64957.