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Genetics of Bone Mineral Density: Evidence for a Major Pleiotropic Effect From an Intercontinental Study

  1. Gregory Livshits1,*,
  2. Hong-Wen Deng2,3,
  3. Tuan V Nguyen4,
  4. Konstantin Yakovenko1,
  5. Robert R Recker2,
  6. John A Eisman4

Article first published online: 27 JAN 2004

DOI: 10.1359/JBMR.040132

Issue

Journal of Bone and Mineral Research

Journal of Bone and Mineral Research

Volume 19, Issue 6, pages 914–923, June 2004

Additional Information

How to Cite

Livshits, G., Deng, H.-W., Nguyen, T. V., Yakovenko, K., Recker, R. R. and Eisman, J. A. (2004), Genetics of Bone Mineral Density: Evidence for a Major Pleiotropic Effect From an Intercontinental Study. J Bone Miner Res, 19: 914–923. doi: 10.1359/JBMR.040132

Author Information

  1. 1

    Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

  2. 2

    Osteoporosis Research Center, Department of Biomedical Sciences, Creighton University, Omaha, Nebraska, USA

  3. 3

    Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, ChangSha, Peoples Republic of China

  4. 4

    Garvan Institute of Medical Research, Sydney, Australia

*Address reprint requests to: Gregory Livshits, PhD, Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv 69978, Israel

Publication History

  1. Issue published online: 2 DEC 2009
  2. Article first published online: 27 JAN 2004
  3. Manuscript Accepted: 27 JAN 2004
  4. Manuscript Revised: 29 DEC 2003
  5. Manuscript Received: 27 JUL 2003

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REFERENCES

  • 1
    Marshall D, Johnell O, Wedel H 1996 Meta analysis of how well measures of bone mineral density predict occurrence of osteoporotic fractures. BMJ 312: 1254–1259.
  • 2
    Melton LJ III, Atkinson EJ, O'Fallon WM, Wahner HW, Riggs BL 1993 Long term fracture prediction by bone mineral assessed at different skeletal sites. J Bone Miner Res 8: 1227–1233.
  • 3
    Nguyen TV, Howard GM, Kelly PJ, Eisman JA 1998 Bone mass, lean mass and fat mass: Same genes or same environments. Am J Epidemiol 147: 3–16.
  • 4
    Peacock M, Turner CH, Econs MJ, Foroud T 2002 Genetics of osteoporosis. Endocr Rev 23: 303–326.
  • 5
    Nguyen TV, Center JR, Eisman JA 2000 Osteoporosis in elderly men and women: Effects of dietary calcium, physical activity, and body mass index. J Bone Miner Res 15: 322–331.
  • 6
    Nguyen TV, Livshits G, Center JR, Yakovenko K, Eisman JA 2003 Genetic determination of bone mineral density: Evidence for a major gene. J Clin Endocrinol Metab 88: 3614–3620.
  • 7
    Deng HW, Livshits G, Yakovenko K, Xu FH, Conway T, Davies KM, Deng HY, Recker RR 2002 Evidence of a major gene for bone mineral density/content in human pedigrees identified via probands with extreme bone mineral density. Ann Hum Genet 66: 61–74.
  • 8
    Livshits G, Karasik D, Kobyliansky E 2002 Complex segregation analysis of the radiographic phalanges bone mineral density and their age-related changes. J Bone Miner Res 17: 152–161.
  • 9
    Deng HW, Xu FH, Huang QY, Shen H, Deng HY, Conway T, Liu YJ, Liu YZ, Zhang HT, Davies KM, Recker RR 2002 A whole genome scan suggests several genomic regions potentially containing quantitative trait loci for osteoporosis. J Clin Endocrinol Metab 87: 5151–5159.
  • 10
    Deng HW, Li J 2002 The effects of selected sampling on the transmission disequilibrium test of a quantitative trait locus. Genet Res 79: 161–174.
  • 11
    Recker R, Lappe J, Davies K, Heaney R 2000 Characterization of perimenopausal bone loss: A prospective study. J Bone Miner Res 15: 1965–1973.
  • 12
    Livshits G, Kalichman L, Cohen Z, Kobyliansky E 2002 Mode of inheritance of hand osteoarthritis in ethnically homogeneous pedigrees. Hum Biol 74: 849–860.
  • 13
    Livshits G, Karasik D, Pavlovsky O, Kobyliansky E 1999 Segregation analysis reveals a major gene effect in compact and cancellous bone mineral density in two populations. Hum Biol 71: 155–172.
  • 14
    Rice T, Fespres JP, Daw EW, Gagnon J, Borecki IB, Perusse L, Leon AS, Skinner JS, Wilmore JH, Rao DC, Bourchard C 1997 Familial resemblance for abdominal visceral fat: The HERITAGE family study. Int J Obes Relat Metab Disord 21: 1024–1031.
  • 15
    Falconer DS, Mackay TF 1996 Introduction to Quantitative Genetics, 4th ed. Longman, London, UK.
  • 16
    Elston RC 1981 Segregation analysis. Adv Hum Genet 11: 63–120.
  • 17
    Ginsburg E, Livshits G 1999 Segregation analysis of quantitative traits. Ann Hum Biol 26: 103–129.
  • 18
    Livshits G, Karasik D, Otremski I, Kobyliansky E 1998 Genes play an important role in bone aging. Am J Hum Biol 10: 421–438.
  • 19
    Liu YZ, Liu YJ, Recker RR, Deng HW 2003 Molecular studies of identification of genes for osteoporosis: The 2002 update. J Endocrinol 177: 147–196.
  • 20
    Sapir-Koren R, Livshits G, Landsman T, Kobyliansky E 2001 Bone mineral density is associated with estrogen receptor gene polymorphism in men. Anthropol Anz 59: 343–353.
  • 21
    Sapir-Koren R, Livshits G, Kobyliansky E 2003 Association and linkage disequilibrium analyses suggest genetic effects of estrogen receptor a and collagen IA1 genes on bone mineral density in Caucasian women. Calcif Tissue Int 72: 643–650.
  • 22
    Sapir-Koren R, Livshits G, Kobyliansky E 2003 Genetic effect of estrogen receptor α (alpha) and collagen IA1 genes on the relationships of PTH and 25(OH)D with bone mineral density in Caucasian women. Metabolism 52: 1129–1135.
  • 23
    Sokal RR, Rohlf FJ 1981 Biometry: The Principles and Practice of Statistics in Biological Research, 2nd ed. W. H. Freeman and Co., New York, NY, USA.
  • 24
    Karasik D, Myers RH, Cupples LA, Hannan MT, Gagnon DR, Herbet 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: 1718–1727.
  • 25
    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: 144–155.
  • 26
    Styrkarsdottir U, Cazier JB, Rolfsson O, Sigurdardottir MS, Larsen H, Bjarnadottir E, Johannsdottir VD, Jonasson K, Kong A, Gulche J, Sigurdsson G, Stefanson K 2003 Linkage and haplotype analysis in Icelandic osteoporotic families identify a susceptibility gene for osteoporosis. Presented at II International Workshop on the Genetics of Bone Metabolism and Disease, Davos, Switzerland. Calcif Tiss Int 72: 256–273.
  • 27
    Deng HW, Xu FH, Conway T, Deng XT, Li JL, Davies KM, Deng HY, Johnson M, Recker RR 2001 Is population bone mineral density variation linked to the marker D11S987 on chromosome 11q12–13? J Clin Endocrinol Metab 86: 3735–3741.
  • 28
    Allison DB, Thiel B, St Jean P, Elston RC, Infante MC, Schork NJ 1998 Multiple phenotype modeling in gene-mapping studies of quantitative traits: Power advantages. Am J Hum Genet 63: 1190–1201.
  • 29
    Boomsma DI, Dolan CV 1998 A comparison of power to detect QTL in sib-pair data using multivariate phenotypes, mean phenotypes and factor scores. Behav Genet 28: 329–340.
  • 30
    Karasik D, Hannan M, Kiel D, Bouxsein M, Cupples L 2002 Is a factor score combining dual X-ray absorptiometry and ultrasound a better phenotype for genetic studies? J Bone Miner Res 17: S236–S236.
  • 31
    Evans DM 2002 The power of multivariate quantitative trait loci linkage analysis is influenced by the correlation between variables. Am J Hum Genet 70: 1599–1602.
  • 32
    Kaabi B, Elston RC 2003 New multivariate test for linkage, with application to pleiotropy: Fuzzy Haseman-Elston. Genet Epidemiol 24: 253–264.
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