Skip to main content

Advertisement

Log in

Genetic and environmental correlations between bone phenotypes and anthropometric indices in Chinese

  • Original Article
  • Published:
Osteoporosis International Aims and scope Submit manuscript

Abstract

Height, weight, bone mineral density (BMD), and bone size are all influenced by genetic and environmental factors as well as interactions between them. Height and weight are often used in population studies to adjust the bone phenotypes. However, it is still unknown what proportion of genetic and environmental variability is shared between these anthropometric characteristics and the bone phenotypes. The genetic and environmental correlations between the bone phenotypes and anthropometric indices in Chinese subjects were studied by bivariate quantitative genetic analysis on a sample of 931 healthy subjects from 292 Chinese nuclear families aged from 19 to 79 years. BMD and bone size at the lumbar spine (L1–L4) and the hip of all subjects were measured by dual-energy X-ray absorptiometry. We found significant genetic correlations between weight and spine BMD, hip BMD, spine bone size and hip bone size, which were 0.50 (P<0.01), 0.45 (P<0.01), 0.36 (P=0.02), and 0.38 (P<0.01), respectively. Likewise, significant genetic correlations between height and spine BMD, spine bone size, and hip bone size were 0.30 (P=0.02), 0.54 (P<0.01), and 0.58 (P<0.01), respectively. The environmental correlations were found to be significant only between height and spine bone size (P<0.001) and weight and hip BMD (P=0.02). These results suggest the probability that the same genetic and environmental factors contribute to these different phenotypes. Moreover, when a candidate gene or genomic region is responsible for the variation of both bone phenotypes and anthropometric indices, its true genetic effect on the bone phenotypes may be lost after one has adjusted the phenotypic values with weight and height as random environmental factors. It may have implications for population studies of candidate genes that underlie the complex bone phenotypes and for the development of strategies for therapeutic application.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Cummings SR, Kelsey JL, Nevitt MC, O’Dowd KJ (1985) Epidemiology of osteoporosis and osteoporotic fractures. Epidemiol Rev 7:178–208

    CAS  PubMed  Google Scholar 

  2. Duan Y, Parfitt Am, Seeman E (1999) Vertebral bone mass, size, and volumetric density in women with spinal fractures. J Bone Miner Res 14:1796–1802

    Google Scholar 

  3. Dequeker J, Nijs J, Verstraeten A, Geusens P, Gevers G (1987) Genetic determinants of bone mineral content at the spine and radius: a twin study. Bone 8:207–9

    Article  CAS  PubMed  Google Scholar 

  4. Deng HW, Deng XT, Xu FH, Davies KM, Lai DB, Convey T, Recker RR (2002) Determination of bone size of the hip, spine, and wrist in human pedigrees by genetic and life-style factors. J Clin Densitom 5:45–56

    Article  Google Scholar 

  5. Hirschhorn JN, Lindgren CM, Daly MJ, Kirby A, Schaffner SF, Burtt NP, Altshuler D, Parker A, Rioux JD, Platko J, Gaudet D, Hudson TJ, Groop LC, Lander ES (2001) Genome-wide linkage analysis of stature in components multiple populations reveals several regions with evidence of linkage to adult height. Am J Hum Genet 69:106–116

    Article  Google Scholar 

  6. van Rossum CT, Hoebee B, van Baak MA, Mars M, Saris WH, Seidell JC (2003) Genetic variation in the leptin receptor gene, leptin, and weight gain in young Dutch adults. Obes Res 11:377–386

    Google Scholar 

  7. Jian WX, Long JR, Deng HW (2004) High heritability of bone size at the hip and spine in Chinese. J Hum Genet 49: 87–91

    Article  Google Scholar 

  8. Li MX, Liu PY, Li YM, Qin YJ, Liu YZ, Deng HW (2004) A major gene model of height is suggested in Chinese. J Hum Genet 49:148–153

    Article  Google Scholar 

  9. Dangour AD, Hill HL, Ismail SJ (2002) Height, weight and haemoglobin status of 6 to 59-month-old Kazakh children living in Kzyl-Orda region, Kazakhstan. Eur J Clin Nutr 56:1030–1038

    Article  Google Scholar 

  10. Turrell G (2002) Socio-economic position and height in early adulthood. Aust N Z J Public Health 26:468–472

    Google Scholar 

  11. Afghani A, Xie B, Wiswell RA, Gong J, Li Y, Anderson Johnson C (2003) Bone mass of Asian adolescents in China: influence of physical activity and smoking. Med Sci Sports Exerc 35:720–729

    Google Scholar 

  12. Huuskonen J, Vaisanen SB, Kroger H, Jurvelin C, Bouchard C, Alhava E, Rauramaa R (2000) Determinants of bone mineral density in middle aged men: a population-based study. Osteoporos Int 11:702–708

    Article  CAS  PubMed  Google Scholar 

  13. Bendavid EJ, Shan J, Barrett-Connor E (1996) Factors associated with bone mineral density in middle-aged men. J Bone Miner Res 11:1185–1190

    CAS  PubMed  Google Scholar 

  14. Han KO, Moon G, Kang YS, Chung HY, Min HK, Han IK (1997) Nonassociation of estrogen receptor genotypes with bone mineral density and estrogen responsiveness to hormone replacement therapy in Korean postmenopausal women. J Clin Endocrinol Metab 82:991–995

    Article  CAS  PubMed  Google Scholar 

  15. Lei SF, Deng FY, Li MX, Dvornyk V, Deng HW (2004) Bone mineral density in elderly Chinese: effects of age, sex, weight, height, and body mass index. J Bone Mineral Metab 22:71–78

    Article  Google Scholar 

  16. Munaisinghe RL, Botea V, Edelson GW (2002) Association among age, height, weight, and body mass index with discordant regional bone mineral density. J Clin Densitom 5:369–373

    Article  Google Scholar 

  17. Lange K, Boehnke M (1983) Extensions to pedigree analysis, IV: covariance component models for multivariate traits. Am J Med Genet 14:513–524

    Google Scholar 

  18. Williams JT, Van Eerdewegh P, Almasy L, Blangero J (1999) Joint multipoint linkage analysis of multivariate qualitative and quantitative traits. I. Likelihood formulation and simulation results. Am J Hum Genet 65:1134–1147

    Google Scholar 

  19. Almasy L, Blangero J (1998) Multipoint quantitative trait linkage analysis in general pedigrees. Am J Hum Genet 62:1198–1211

    Article  CAS  PubMed  Google Scholar 

  20. Comuzzie AG, Rainwater DL, Blanger J, Mahaney MC, VandeBerg JL, MacCluer JW (1997) Shared and unique genetic effects among seven HDL phenotypes. Arterioscler Thromb Vasc Biol 17:859–864

    Google Scholar 

  21. Rainwater DL, Martin LJ, Comuzzie AG (2001) Genetic control of coordinated changes in HDL and LDL size phenotypes. Arterioscler Thromb Vasc Biol 21:1829–1833

    Google Scholar 

  22. Deng HW, Chen WM, Conway T, Zhou Y, Davies KM, Stegman MR, Deng HY, Recker RR (2000) Determination of bone mineral density of the hip and spine in human pedigrees by genetic and life-style factors. Genet Epidemiol 19:160–177

    Article  CAS  PubMed  Google Scholar 

  23. Falconer DS (1989) Introduction to quantitative genetics. Longman, England

  24. Lynch M, Walsh B (1998) Genetics and data analysis of quantitative traits. Sinauer, Sunderland, Mass

  25. Carey G (1988) Inference about genetic correlations. Behav Genet 18:329–338

    Google Scholar 

  26. Ferrandez A, Zachmann M, Prader A, Illig R (1970) Isolated growth hormone deficiency in prepubertal children. Influence of human growth hormone on longitudinal growth, adipose tissue, bone mass and bone maturation. Helv Paediatr Acta 25:566–576

    Google Scholar 

  27. Procter AM, Phillips JA 3rd, Cooper DN (1998) The molecular genetics of growth hormone deficiency. Hum Genet 103:255–272

    Article  Google Scholar 

  28. Parra A, Argote RM, Garcia G, Cervantes C, Alatorre S, Perez-Pasten E (1979) Body composition in hypopituitary dwarfs before and during human growth hormone therapy. Metabolism. 28:851–857

    Google Scholar 

  29. Arends NJ, Boonstra VH, Mulder PG, Odink RJ, Stokvis-Brantsma WH, Rongen-Westerlaken C, Mulder JC, Delemarre-Van de Waal H, Reeser HM, Jansen M, Waelkens JJ, Hokken-Koelega AC (2003) GH treatment and its effect on bone mineral density, bone maturation and growth in short children born small for gestational age: 3-year results of a randomized, controlled GH trial. Clin Endocrinol 59:779–787

    Google Scholar 

  30. Klein IE (1975) The effect of thyrocalcitonin and growth hormones on bone metabolism. J Prosthet Dent 33:365–379

    Google Scholar 

  31. Di Stasio L, Sartore S, Albera A (2002) Lack of association of GH1 and POU1F1 gene variants with meat production traits in Piedmontese cattle. Anim Genet 33:61–64

    Article  Google Scholar 

  32. Horan M, Millar DS, Hedderich J, Lewis G, Newsway V, Mo N, Fryklund L, Procter AM, Krawczak M, Cooper DN (2003) Human growth 1 (GH1) gene expression: complex haplotype-dependent influence of polymorphic variation in the proximal promoter and locus control region. Hum Mutat 21:408–423

    Article  Google Scholar 

  33. Garnero P, Borel O, Grant SF, Ralston SH, Delmas PD (1998) Collagen Ialpha1 Sp1 polymorphism, bone mass, and bone turnover in healthy French premenopausal women: the OFELY study. J Bone Miner Res 13:813–817

    CAS  PubMed  Google Scholar 

  34. van der Sluis IM, de Muinck Keizer-Schrama SM, Krenning EP, Pols HA, Uitterlinden AG (2003) Vitamin D receptor gene polymorphism predicts height and bone size, rather than bone density, in children and young adults. Calcif Tissue Int 73:332–338

    Article  Google Scholar 

  35. Minamitani K, Takahashi Y, Minagawa M, Yasuda T, Niimi H (1998) Difference in height associated with a translation start site polymorphism in the vitamin D receptor gene. Pediatr Res 44:628–632

    Google Scholar 

  36. Suarez F, Zeghoud F, Rossignol C, Walrant O, Garabedian M (1997) Association between vitamin D receptor gene polymorphism and sex-dependent growth during the first two years of life. J Clin Endocrinol Metab 82:2966–2970

    Google Scholar 

  37. Need AG, Horowitz M, Stiliano A, Scopacasa F, Morris HA, Chatterton BE (1996) Vitamin D receptor genotypes are related to bone size and bone density in men. Eur J Clin Invest 26:793–796

    Article  Google Scholar 

  38. Dennison EM, Arden NK, Keen RW, Syddall H, Day IN, Spector TD, Cooper C (2001) Birthweight, vitamin D receptor genotype and the programming of osteoporosis. Paediatr Perinat Epidemiol 15:211–219

    Article  Google Scholar 

  39. Lorentzon M, Lorentzon R, Nordstrom P (2000) Vitamin D receptor gene polymorphism is associated with birth height, growth to adolescence, and adult stature in healthy Caucasian men: a cross-sectional and longitudinal study. J Clin Endocrinol Metab 85:1666–1670

    Google Scholar 

  40. Ralston SH (2002) Genetic control of susceptibility to osteoporosis J Clin Endocrinol Metab 87:2460–2466

    Google Scholar 

  41. Sapir-Koren G, Livshits G, Landsman T, Kobyliansky E (2001) Bone mineral density is associated with estrogen receptor gene polymorphism in men. Anthropol Anz 59:343–353

    Google Scholar 

  42. Maehle BO, Tretli S, Skjaerven R, Thorsen T (2001) Premorbid body weight and its relations to primary tumour diameter in breast cancer patients; its dependence on oestrogen and progesterone receptor status. Breast Cancer Res Treat 68:159–169

    Google Scholar 

Download references

Acknowledgments

The study was partially supported by a project from the Scientific Research Fund of Hunan Provincial Education Department (02A027), the National Science Foundation of China (NSFC) Outstanding Young Scientist Award (30025025), a general (30170504) and key project (30230210) grant from the NSFC, and a Seed Fund (25000106) and an Outstanding Young Award from the Huo Ying Dong Education Foundation (81017). H.-W. Deng was partially supported by grants from the Health Future Foundation, the State of Nebraska Cancer and Smoking Related Disease Research Program, the State of Nebraska Tobacco Settlement Fund (LB 595, LB 692), and a US Department of Energy grant.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Hong-Wen Deng.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Yang, YJ., Dvornyk, V., Jian, WX. et al. Genetic and environmental correlations between bone phenotypes and anthropometric indices in Chinese. Osteoporos Int 16, 1134–1140 (2005). https://doi.org/10.1007/s00198-004-1825-9

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00198-004-1825-9

Keywords

Navigation