Bone
Volume 44, Issue 3 , Pages 442-448 , March 2009

The Val432Leu polymorphism of the CYP1B1 gene is associated with differences in estrogen metabolism and bone density

  • Nicola Napoli

      Affiliations

    • Division of Bone and Mineral Diseases, Washington University School of Medicine Campus, Box 8301, 660 South Euclid Ave., St. Louis, MO 63110, USA
    • Division of Endocrinology, Campus Bio-Medico, Rome, Italy
    • ,
  • Giovam Battista Rini

      Affiliations

    • Department of Internal Medicine, University of Palermo, Italy
    • ,
  • Daniel Serber

      Affiliations

    • Division of Bone and Mineral Diseases, Washington University School of Medicine Campus, Box 8301, 660 South Euclid Ave., St. Louis, MO 63110, USA
    • ,
  • Tusar Giri

      Affiliations

    • Division of Bone and Mineral Diseases, Washington University School of Medicine Campus, Box 8301, 660 South Euclid Ave., St. Louis, MO 63110, USA
    • ,
  • Jayasree Yarramaneni

      Affiliations

    • Division of Bone and Mineral Diseases, Washington University School of Medicine Campus, Box 8301, 660 South Euclid Ave., St. Louis, MO 63110, USA
    • ,
  • Salvatore Bucchieri

      Affiliations

    • Department of Internal Medicine, University of Palermo, Italy
    • ,
  • Lawrence Camarda

      Affiliations

    • Department of Neurology, University of Palermo, Italy
    • ,
  • Gaetana Di Fede

      Affiliations

    • Department of Internal Medicine, University of Palermo, Italy
    • ,
  • Marcello Rosolino Camarda

      Affiliations

    • Department of Neurology, University of Palermo, Italy
    • ,
  • Sudahansu Jain

      Affiliations

    • Department of Internal Medicine, St. Luke's Hospital, St. Louis, MO, USA
    • ,
  • Steven Mumm

      Affiliations

    • Division of Bone and Mineral Diseases, Washington University School of Medicine Campus, Box 8301, 660 South Euclid Ave., St. Louis, MO 63110, USA
    • ,
  • Reina Armamento-Villareal

      Affiliations

    • Division of Bone and Mineral Diseases, Washington University School of Medicine Campus, Box 8301, 660 South Euclid Ave., St. Louis, MO 63110, USA
    • Corresponding Author InformationCorresponding author. Fax: +1 314 454 5047.

Received 12 March 2008 ,Revised 11 August 2008 ,Accepted 25 September 2008.

References 

  1. Slemenda C, Hui SL, Longcope C, Johnston CC. Sex steroids and bone mass. A study of changes about the time of menopause. J. Clin. Invest. 1987;80(5):1261–1269
  2. Barrett-Connor E, Mueller JE, von Muhlen DG, Laughlin GA, Schneider DL, Sartoris DJ. Low levels of estradiol are associated with vertebral fractures in older men, but not women: the Rancho Bernardo study. J. Clin. Endocrinol. Metab. 2000;85(1):219–223
  3. Adlercreutz H, Gorbach SL, Goldin BR, Woods MN, Dwyer JT, Hamalainen E. Estrogen metabolism and excretion in Oriental and Caucasian women. J. Natl. Cancer Inst. 1994;86(14):1076–1082
  4. Lippert TH, Seeger H, Mueck AO. The impact of endogenous estradiol metabolites on carcinogenesis. Steroids. 2000;65(7):357–369
  5. Grodin JM, Siiteri PK, MacDonald PC. Source of estrogen production in postmenopausal women. J. Clin. Endocrinol. Metab. 1973;36(2):207–214
  6. Fishman J, Bradlow HL, Gallagher TF. Oxidative metabolism of estradiol. J. Biol. Chem. 1960;235:3104–3107
  7. Bradlow HL, Telang NT. Sepkovic DW, Osborne MP. 2-hydroxyestrone: the ‘good’ estrogen. J. Endocrinol. 1996;150 Suppl:S259–S265
  8. Westerlind KC, Gibson KJ, Malone P, Evans GL, Turner RT. Differential effects of estrogen metabolites on bone and reproductive tissues of ovariectomized rats. J. Bone. Miner. Res. 1998;13(6):1023–1031
  9. Muti P, Bradlow HL, Micheli A, et al. Estrogen metabolism and risk of breast cancer: a prospective study of the 2:16alpha-hydroxyestrone ratio in premenopausal and postmenopausal women. Epidemiology. 2000;11(6):635–640
  10. Osborne MP, Bradlow HL, Wong GY, Telang NT. Upregulation of estradiol C16 alpha-hydroxylation in human breast tissue: a potential biomarker of breast cancer risk. J. Natl. Cancer Inst. 1993;85(23):1917–1920
  11. Leelawattana R, Ziambaras K, Roodman-Weiss J, et al. The oxidative metabolism of estradiol conditions postmenopausal bone density and bone loss. J. Bone Miner. Res. 2000;15(12):2513–2520
  12. Napoli N, Villareal DT, Mumm S, et al. Effect of CYP1A1 gene polymorphisms on estrogen metabolism and bone density. J. Bone Miner. Res. 2005;20(2):232–239
  13. Martucci CP, Fishman J. P450 enzymes of estrogen metabolism. Pharmacol. Ther. 1993;57(2–3):237–257
  14. Badawi AF, Cavalieri EL, Rogan EG. Role of human cytochrome P450 1A1, 1A2, 1B1, and 3A4 in the 2-, 4-, and 16alpha-hydroxylation of 17beta-estradiol. Metabolism. 2001;50(9):1001–1003
  15. Taioli E, Bradlow HL, Garbers SV, et al. Role of estradiol metabolism and CYP1A1 polymorphisms in breast cancer risk. Cancer Detect. Prev. 1999;23(3):232–237
  16. Esteller M, Garcia A, Martinez-Palones JM, Xercavins J, Reventos J. Germ line polymorphisms in cytochrome-P450 1A1 (C4887 CYP1A1) and methylenetetrahydrofolate reductase (MTHFR) genes and endometrial cancer susceptibility. Carcinogenesis. 1997;18(12):2307–2311
  17. Watanabe J, Shimada T, Gillam EM, et al. Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer. Pharmacogenetics. 2000;10(1):25–33
  18. Goodman MT, McDuffie K, Kolonel LN, et al. Case-control study of ovarian cancer and polymorphisms in genes involved in catecholestrogen formation and metabolism. Cancer Epidemiol. Biomarkers. Prev. 2001;10(3):209–216
  19. Krajinovic M, Ghadirian P, Richer C, et al. Genetic susceptibility to breast cancer in French-Canadians: role of carcinogen-metabolizing enzymes and gene-environment interactions. Int. J. Cancer. 2001;92(2):220–225
  20. Zheng W, Xie DW, Jin F, et al. Genetic polymorphism of cytochrome P450-1B1 and risk of breast cancer. Cancer Epidemiol. Biomarkers. Prev. 2000;9(2):147–150
  21. Michnovicz JJ, Adlercreutz H, Bradlow HL. Changes in levels of urinary estrogen metabolites after oral indole-3-carbinol treatment in humans. J. Natl. Cancer Inst. 1997;89(10):718–723
  22. Napoli N, Thompson J, Civitelli R, rmamento-Villareal RC. Effects of dietary calcium compared with calcium supplements on estrogen metabolism and bone mineral density. Am. J. Clin. Nutr. 2007;85(5):1428–1433
  23. Armamento-Villareal R, Villareal DT, Avioli LV, Civitelli R. Estrogen status and heredity are major determinants of premenopausal bone mass. J. Clin. Invest. 1992;90(6):2464–2471
  24. Klug TL, Bradlow HL, Sepkovic DW. Monoclonal antibody-based enzyme immunoassay for simultaneous quantitation of 2- and 16 alpha-hydroxyestrone in urine. Steroids. 1994;59(11):648–655
  25. Szulc P, Hofbauer LC, Heufelder AE, Roth S, Delmas PD. Osteoprotegerin serum levels in men: correlation with age, estrogen, and testosterone status. J. Clin. Endocrinol. Metab. 2001;86(7):3162–3165
  26. Clark P, Tesoriero LJ, Morton DJ, et al. Hip axis length variation: its correlation with anthropometric measurements in women from three ethnic groups. Osteoporos. Int. 2008;
  27. Dawson-Hughes B. A revised clinician's guide to the prevention and treatment of osteoporosis. J. Clin. Endocrinol. Metab. 2008 (Jul);93(7):2463–2465Electronic Publication 2008 Jun 10
  28. Cummings SR, Black DM, Nevitt MC, et al. Bone density at various sites for prediction of hip fractures. The study of Osteoporotic Fractures Research Group. Lancet. 1993;341(8837):72–75
  29. Hanna IH, Dawling S, Roodi N, Guengerich FP, Parl FF. Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res. 2000;60(13):3440–3444
  30. Paracchini V, Raimondi S, Gram IT, et al. Meta- and pooled analyses of the cytochrome P-450 1B1 Val432Leu polymorphism and breast cancer: a HuGE-GSEC review. Am. J. Epidemiol. 2007;165(2):115–125
  31. Gong G, Haynatzki G. Association between bone mineral density and candidate genes in different ethnic populations and its implications. Calcif. Tissue Int. 2003;72(2):113–123
  32. Lei SF, Deng FY, Liu XH, et al. Polymorphisms of four bone mineral density candidate genes in Chinese populations and comparison with other populations of different ethnicity. J. Bone Miner. Metab. 2003;21(1):34–42
  33. Falchetti A, Sferrazza C, Cepollaro C, et al. FokI polymorphism of the vitamin D receptor gene correlates with parameters of bone mass and turnover in a female population of the Italian island of Lampedusa. Calcif. Tissue Int. 2007;80(1):15–20
  34. Freedman ML, Reich D, Penney KL, et al. Assessing the impact of population stratification on genetic association studies. Nat. Genet. 2004;36(4):388–393
  35. Wacholder S, Rothman N, Caporaso N. Population stratification in epidemiologic studies of common genetic variants and cancer: quantification of bias. J. Natl. Cancer Inst. 2000;92(14):1151–1158
  36. Sasaki M, Tanaka Y, Kaneuchi M, Sakuragi N, Dahiya R. CYP1B1 gene polymorphisms have higher risk for endometrial cancer, and positive correlations with estrogen receptor alpha and estrogen receptor beta expressions. Cancer Res. 2003;63(14):3913–3918
  37. Spink BC, Pang S, Pentecost BT, Spink DC. Induction of cytochrome P450 1B1 in MDA-MB-231 human breast cancer cells by non-ortho-substituted polychlorinated biphenyls. Toxicol. In Vitro. 2002;16(6):695–704
  38. Nock NL, Tang D, Rundle A, et al. Associations between smoking, polymorphisms in polycyclic aromatic hydrocarbon (PAH) metabolism and conjugation genes and PAH-DNA adducts in prostate tumors differ by race. Cancer Epidemiol. Biomarkers. Prev. 2007;16(6):1236–1245
  39. Santen RJ, Lee JS, Wang S, et al. Potential role of ultra-sensitive estradiol assays in estimating the risk of breast cancer and fractures. Steroids. 2008;73(13):1318–1321

☆ Presented in part at the 26th Annual Meeting of the American Society for Bone and Mineral Research, September 19–22, 2004, Seattle, Washington.

PII: S8756-3282(08)00812-0

doi: 10.1016/j.bone.2008.09.018

Bone
Volume 44, Issue 3 , Pages 442-448 , March 2009

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