The American Journal of Medicine
Volume 119, Issue 9, Supplement 1 , Pages S79-S86 , September 2006

The Association of Bone Mineral Density with Estrogen Receptor Gene Polymorphisms

  • Gail A. Greendale, MD

      Affiliations

    • Division of Geriatrics, David Geffen School of Medicine at the University of California–Los Angeles, California, USA
    • Corresponding Author InformationRequests for reprints should be addressed to Gail A. Greendale, MD, David Geffen School of Medicine, University of California–Los Angeles, Division of Geriatrics, 10945 LeConte Avenue, Suite 2339, Los Angeles, California 90095-1687.
  • ,
  • Jian Chu, MS

      Affiliations

    • Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan, USA
  • ,
  • Robert Ferrell, PhD

      Affiliations

    • Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
  • ,
  • John F. Randolph Jr., MD

      Affiliations

    • Department of Obstetrics and Gynecology, University of Michigan, Ann Arbor, Michigan, USA
  • ,
  • Janet M. Johnston, PhD

      Affiliations

    • Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania, USA
  • ,
  • MaryFran R. Sowers, PhD

      Affiliations

    • Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan, USA
    • Department of Obstetrics and Gynecology, University of Michigan, Ann Arbor, Michigan, USA

References 

  1. Kardia SR , Chu J , Sowers MR . Characterizing variation in sex steroid hormone pathway genes in women of 4 races/ethnicities: the Study of Women’s Health Across the Nation (SWAN) . Am J Med . 2006;119(suppl):S3–S15
  2. Bland R . Steroid hormone receptor expression and action in bone . Clin Sci . 2000;98:217–240
  3. Lim SK , Won YJ , Lee HC , Huh KB , Park YS . A PCR analysis of ERα and ERβ mRNA abundance in rats and the effect of ovariectomy . J Bone Miner Res . 1999;14:1189–1196
  4. Bord S , Horner A , Beavan S , Compston J . Estrogen receptors alpha and beta are differentially expressed in developing human bone . J Clin Endocrinol Metab . 2001;86:2309–2314
  5. Ioannidis JP , Stavrou I , Trikalinos TA , et al.   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 . 2002;17:2048–2060
  6. Gennari L , Merlotti D , De Paola V , et al.   Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a HuGE review . Am J Epidemiol . 2005;161:307–320
  7. Sowers MF , Crawford S , Sternfeld B , et al.   Design, survey sampling and recruitment methods of SWAN: a multicenter, multiethnic, community-based cohort study of women and the menopausal transition . In:  Lobo RA ,  Kelsey J ,  Marcus R editor. Menopause: Biology and Pathobiology . San Diego, CA: Academic Press; 2000;p. 175–188
  8. Finkelstein JS , Lee ML , Sowers M , et al.   Ethnic variation in bone density in premenopausal and early perimenopausal women: effects of anthropometric and lifestyle factors . J Clin Endocrinol Metab . 2002;87:3057–3067
  9. Greendale GA , Huang MH , Wang Y , Finkelstein JS , Danielson ME , Sternfeld B . Sport and home physical activity are independently associated with bone density . Med Sci Sports Exerc . 2003;35:506–512
  10. Sowers MR , Finkelstein JS , Ettinger B , et al.  Study of Women’s Health Across the Nation   The association of endogenous hormone concentrations and bone mineral density measures in pre- and perimenopausal women of four ethnic groups: SWAN . Osteoporos Int . 2003;14:44–52
  11. Ferris BG . Epidemiology Standardization Project (American Thoracic Society) . Am Rev Respir Dis . 1978;118:1–120
  12. Block G , Thompson FE , Hartman AM , Larkin FA , Guire KE . Comparison of two dietary questionnaires validated against multiple dietary records collected during a 1-year period . J Am Diet Assoc . 1992;92:686–693
  13. Baecke JA , Burema J , Frijters JE . A short questionnaire of habitual physical activity in epidemiological studies . Am J Clin Nutr . 1982;36:936–942
  14. Sternfeld B , Ainsworth BE , Quesenberry CP . Physical activity patterns in a diverse population of women . Prev Med . 1999;28:313–323
  15. Greendale GA , Edelstein S , Barrett-Connor E . Endogenous sex steroids and bone mineral density in older women and men: the Rancho Bernardo Study . J Bone Miner Res . 1997;12:1833–1843
  16. Khosla S , Melton LJ , Atkinson EJ , O’Fallon WM . Relationship of serum sex steroid levels to longitudinal changes in bone density in young versus elderly men . J Clin Endocrinol Metab . 2001;86:3555–3561
  17. Vandevyver C , Vanhoof J , Declerck K , et al.   Lack of association between estrogen receptor genotypes and bone mineral density, fracture history, or muscle strength in elderly women . J Bone Miner Res . 1999;14:1576–1582
  18. Lau EM , Young RP , Lam V , Li M , Woo J . Estrogen receptor gene polymorphism and bone mineral density in postmenopausal Chinese women . Bone . 2001;29:96–98
  19. Bagger YZ , Jorgensen HL , Heegaard AM , Bayer L , Hansen L , Hassager C . No major effect of estrogen receptor gene polymorphisms on bone mineral density or bone loss in postmenopausal Danish women . Bone . 2000;26:111–116
  20. Mizunuma H , Hosoi T , Okano H , et al.   Estrogen receptor gene polymorphism and bone mineral density at the lumbar spine of pre- and postmenopausal women . Bone . 1997;21:379–383
  21. Ho AY , Yeung SS , Kung AW . PvuII polymorphisms of the estrogen receptor alpha and bone mineral density in healthy southern Chinese women . Calcif Tissue Int . 2000;66:405–408
  22. Han K , Choi J , Moon I , et al.   Non-association of estrogen receptor genotypes with bone mineral density and bone turnover in Korean pre-, peri-, and postmenopausal women . Osteoporos Int . 1999;9:290–295
  23. Qin YJ , Zhang ZL , Huang QR , et al.   Association of vitamin D receptor and estrogen receptor-alpha gene polymorphism with peak bone mass and bone size in Chinese women . Acta Pharmacol Sin . 2004;25:462–468
  24. Salmen T , Heikkinen AM , Mahonen A , et al.   Early postmenopausal bone loss is associated with PvuII estrogen receptor gene polymorphism in Finnish women: effect of hormone replacement therapy . J Bone Miner Res . 2000;15:315–321
  25. Yamada Y , Ando F , Niino N , Ohta S , Shimokata H . Association of polymorphisms of the estrogen receptor alpha gene with bone mineral density of the femoral neck in elderly Japanese women . J Mol Med . 2002;80:453–460
  26. Zhang YY , Long JR , Liu PY , et al.   Estrogen receptor alpha and vitamin D receptor gene polymorphisms and bone mineral density: association study of healthy pre- and postmenopausal Chinese women . Biochem Biophys Res Commun . 2003;308:777–783
  27. Gennari L , Becherini L , Masi L , et al.   Vitamin D and estrogen receptor allelic variants in Italian postmenopausal women: evidence of multiple gene contribution to bone mineral density . J Clin Endocrinol Metab . 1998;83:939–944
  28. Ushiroyama T , Heishi M , Higashio S , Ikeda A , Ueki M . The association between postmenopausal vertebral bone mineral density and estrogen receptor gene alleles in ethnic Japanese living in western Japan . Res Commun Mol Pathol Pharmacol . 2001;109:15–24
  29. Kobayashi S , Inoue S , Hosoi T , Ouchi Y , Shiraki M , Orimo H . Association of bone mineral density with polymorphism of the estrogen receptor gene . J Bone Miner Res . 1996;11:306–311
  30. Kim JG , Lim KS , Kim EK , Choi YM , Lee JY . Association of vitamin D receptor and estrogen receptor gene polymorphisms with bone mass in postmenopausal Korean women . Menopause . 2001;8:222–228
  31. Willing M , Sowers M , Aron D , et al.   Bone mineral density and its change in white women: estrogen and vitamin D receptor genotypes and their interaction . J Bone Miner Res . 1998;13:695–705
  32. Ongphiphadhanakul B , Rajatanavin R , Chanprasertyothin S , et al.   Estrogen receptor gene polymorphism is associated with bone mineral density in premenopausal women but not in postmenopausal women . J Endocrinol Invest . 1998;21:487–493
  33. Castagnoli A , Maestri I , Bernardi F , Del Senno L . PvuII RFLP inside the human estrogen receptor gene . Nucleic Acids Res . 1987;15:866
  34. Sowers M , Jannausch ML , Liang W , Willing M . Estrogen receptor genotypes and their association with the 10-year changes in bone mineral density and osteocalcin concentrations . J Clin Endocrinol Metab . 2004;89:733–739

 The Study of Women’s Health Across the Nation (SWAN) and the SWAN Repository were supported by grants from the National Institutes of Health (NIH), Department of Health and Human Services, through the National Institute on Aging, the National Institute of Nursing Research, and the NIH Office of Research on Women’s Health (Grant Nos. AG017719, NR004061, AG012505, AG012535, AG012531, AG012539, AG012546, AG012553, AG012554, and AG012495). The Sex Steroid Hormone Genetics Protocol was supported by the SWAN Repository.This report is based on samples from the SWAN DNA Repository. Scientists interested in developing studies based on this resource can find a description of the SWAN Core Repository and SWAN DNA Repository and information on obtaining access to the resources at www.swanrepository.org.

PII: S0002-9343(06)00833-3

doi: 10.1016/j.amjmed.2006.07.011

The American Journal of Medicine
Volume 119, Issue 9, Supplement 1 , Pages S79-S86 , September 2006