The American Journal of Medicine
Volume 119, Issue 9, Supplement 1 , Pages S16-S22 , September 2006

Endogenous Estradiol and Its Association with Estrogen Receptor Gene Polymorphisms

  • 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
    • Corresponding Author InformationRequests for reprints should be addressed to MaryFran R. Sowers, PhD, 339 East Liberty, Suite 10, School of Public Health, University of Michigan, Ann Arbor, Michigan 48104.
    • ,
  • Mary L. Jannausch, MS

      Affiliations

    • Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan, USA
    • ,
  • Daniel S. McConnell, PhD

      Affiliations

    • Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan, USA
    • ,
  • Sharon R. Kardia, PhD

      Affiliations

    • Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan, USA
    • ,
  • John F. Randolph Jr., MD

      Affiliations

    • Department of Obstetrics and Gynecology, University of Michigan, Ann Arbor, Michigan, USA

References 

  1. Dando TM , Perry CM . 17beta-estradiol/levonorgestrel transdermal system . Treat Endocrinol . 2004;3:319–324
  2. Botteman MF , Shah NP , Lian J , Pashos CL , Simon JA . A cost-effectiveness evaluation of two continuous-combined hormone therapies for the management of moderate-to-severe vasomotor symptoms . Menopause . 2004;11:343–355
  3. Feigelson HS , Henderson BE . Estrogens and breast cancer . Carcinogenesis . 1996;17:2279–2284
  4. Strauss JF , Penning TM . Synthesis of the sex steroid hormones: molecular and structural biology with applications to clinical practice . In:  Fauser BCJM ,  Rutherford AJ ,  Strauss JF ,  Van Steirteghem A editor. Molecular Biology in Reproductive Medicine . New York: Parthenon Publishing; 1999;p. 201–232
  5. Green S , Walter P , Kumar V , et al.   Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A . Nature . 1986;320:134–139
  6. Mosselman S , Polman J , Dijkema R . ERβ: identification and characterization of a novel human estrogen receptor . FEBS Lett . 1996;392:49–53
  7. Nuclear Receptor Committee . A unified nomenclature system for the nuclear receptor superfamily . Cell . 1999;97:161–163
  8. Aumais JP , Lee HS , Lin R , White JH . Selective interaction of hsp90 with an estrogen receptor ligand-binding domain containing a point mutation . J Biol Chem . 1997;272:12229–12235
  9. Nathan DF , Vos MH , Lindquist S . In vivo functions of the Saccharomyces cerevisiae hsp90 chaperone . Proc Natl Acad Sci U S A . 1997;94:12949–12956
  10. Ylikomi T , Wurtz JM , Syvälä H , et al.   Reappraisal of the role of heat shock proteins as regulators of steroid receptor activity . Crit Rev Biochem Mol Biol . 1998;33:437–466
  11. Brzozowski AM , Pike ACW , Dauter Z , et al.   Molecular basis of agonism and antagonism in the oestrogen receptor . Nature . 1997;389:753–758
  12. McKenna NJ , Xu J , Nawaz Z , Tsai SY , Tsai MJ , O’Malley BW . Nuclear receptor coactivators: multiple enzymes, multiple complexes, multiple functions . J Steroid Biochem Mol Biol . 1999;69:3–12
  13. Belandia B , Orford RL , Hurst HC , Parker MG . Targeting of SWI/SNF chromatin remodelling complexes to estrogen-responsive genes . EMBO J . 2002;21:4094–4103
  14. Reid G , Hübner MR , Métivier R , et al.   Cyclic, proteasome-mediated turnover of unliganded and liganded ERα on responsive promoters is an integral feature of estrogen signaling . Mol Cell . 2003;11:695–707
  15. Hall JM , McDonnell DP . The estrogen receptor β-isoform (ERβ) of the human estrogen receptor modulates ERα transcriptional activity and is a key regulator of the cellular response to estrogens and antiestrogens . Endocrinology . 1999;140:5566–5578
  16. Ogawa S , Inoue S , Watanabe T , et al.   The complete primary structure of human estrogen receptor beta (hER beta) and its heterodimerization with ER alpha in vivo and in vitro . Biochem Biophys Res Commun . 1998;243:122–126
  17. Lindberg MK , Movérare S , Skrtic S , et al.   Estrogen receptor (ER)-β reduces ERα-regulated gene transcription, supporting a “ying [sic] yang” relationship between ERα and ERβ in mice . Mol Endocrinol . 2003;17:203–208
  18. Pettersson K , Delaunay F , Gustafsson JA . Estrogen receptor β acts as a dominant regulator of estrogen signaling . Oncogene . 2000;19:4970–4978
  19. GeneCard for protein-coding ESR1 GC06P152220. Web site of the Weizmann Institute of Science. Available at: http://www.genecards.org/cgi-bin/carddisp?ESR1. Accessed October 5, 2005.
  20. Yaich L , Dupont WD , Cavener DR , Parl FF . Analysis of the PvuII restriction fragment-length polymorphism and exon structure of the estrogen receptor gene in breast cancer and peripheral blood . Cancer Res . 1992;52:77–83
  21. Ponglikitmongkol M , Green S , Chambon P . Genomic organization of the human oestrogen receptor gene . EMBO J . 1988;7:3385–3388
  22. Castagnoli A , Maestri I , Bernardi F , Del Senno L . PvuII RFLP inside the human estrogen receptor gene . Nucleic Acids Res . 1987;15:866
  23. GeneCard for protein-coding ESR2 GC14M063621. Web site of the Weizmann Institute of Science. Available at: http://www.genecards.org/cgi-bin/carddisp?ESR2. Accessed October 5, 2005.
  24. Fritzemeier KH , Hegele-Hartung C . In vitro and in vivo models to characterise estrogens and antiestrogens . In:  Oettel M ,  Schillinger E editor. Estrogens and Antiestrogens II . Berlin: Springer-Verlag; 1999;p. 3–94
  25. Zuppan PJ , Hall JM , Ponglikitmongkol M , Spielman R , King MC . Polymorphisms at the estrogen receptor (ESR) locus and linkage relationships on chromosome 6q . Cytogenet Cell Genet . 1989;51:1116; [abstract]
  26. Hill SM , Fuqua SAW , Chamness GC , Greene GL , McGuire WL . Estrogen receptor expression in human breast cancer associated with an estrogen receptor gene restriction fragment length polymorphism . Cancer Res . 1989;49:145–148
  27. 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
  28. Willing M , Sowers MF , 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;13:695–697
  29. Fan S , Wang JA , Yuan R , et al.   BRCA1 inhibition of estrogen receptor signaling in transfected cells . Science . 1999;284:1354–1356
  30. Li L , Haynes MP , Bender JR . Plasma membrane localization and function of the estrogen receptor α variant (ER46) in human endothelial cells . Proc Natl Acad Sci U S A . 2003;100:4807–4812
  31. 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: Academic Press; 2000;p. 175–188
  32. Single Nucleotide Polymorphism database: dbSNP search page. National Center for Biotechnology Information Web site. Available at: http://www.ncbi.nlm.nih.gov/SNP/. Accessed September 23, 2005.
  33. Ferris BG . Epidemiology Standardization Project (American Thoracic Society) . Am Rev Respir Dis . 1978;118:1–120
  34. Sowers MF , Jannausch ML , McConnell DS , Kardia SR , Randolph JF . Menstrual cycle markers of ovarian aging and sex steroid genotypes . Am J Med . 2006;119(suppl 9A):S31–S43
  35. Kuhnz W , Blode H , Zimmerman H . Pharmacokinetics of exogenous natural and synthetic estrogens and antiestrogens . In:  Oettel M ,  Schillinger E editor. Estrogens and Antiestrogens II . Berlin: Springer-Verlag; 1999;p. 261–322
  36. Malacara JM , Pérez-Luque EL , Martínez-Garza S , Sánchez-Marín FJ . The relationship of estrogen receptor-α polymorphism with symptoms and other characteristics in post-menopausal women . Maturitas . 2004;49:163–169
  37. Westberg L , Baghaei F , Rosmond R , et al.   Polymorphisms of the androgen receptor gene and the estrogen receptor β gene are associated with androgen levels in women . J Clin Endocrinol Metab . 2001;86:2562–2568
  38. Scariano JK , Simplicio SG , Montoya GD , Garry PJ , Baumgartner RN . Estrogen receptor β dinucleotide (CA) repeat polymorphism is significantly associated with bone mineral density in postmenopausal women . Calcif Tissue Int . 2004;74:501–508
  39. Bamshad M . Genetic influences on health: does race matter? . [published correction appears in JAMA. 2005;294:1620]. JAMA . 2005;294:937–946
  40. Randolph JF , Sowers MF , Bondarenko IV , Harlow SD , Luborsky JL , Little RJ . Change in estradiol and follicle-stimulating hormone across the early menopausal transition: effects of ethnicity and age . J Clin Endocrinol Metabol . 2004;89:1555–1561

 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 DNA Repository and information on how to obtain access to the resources at www.swanrepository.org.

PII: S0002-9343(06)00824-2

doi: 10.1016/j.amjmed.2006.07.002

The American Journal of Medicine
Volume 119, Issue 9, Supplement 1 , Pages S16-S22 , September 2006

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