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

Bone

Volumn 44, Issue 3, 2009, Pages 442-448

  Napoli, Nicola ^a,b   Rini, Giovam Battista ^c   Serber, Daniel ^a   Giri, Tusar ^a   Yarramaneni, Jayasree ^a   Bucchieri, Salvatore ^c   Camarda, Lawrence ^d   Di Fede, Gaetana ^c   Camarda, Marcello Rosolino ^d   Jain, Sudahansu ^e   Mumm, Steven ^a   Armamento Villareal, Reina ^a  

^a Division of Bone and Mineral Diseases   (United States)

^b Division of Endocrinology   (Italy)

^c UNIVERSITY OF PALERMO   (Italy)

^d UNIVERSITY OF PALERMO   (Italy)

^e ST LUKE S HOSPITAL   (United States)

Author keywords

Epidemiology; Genetic research; Hormone; Menopause; Osteoporosis; Receptors

Indexed keywords

ALANINE; CREATININE; CYTOCHROME P450 1B1; ESTRADIOL; ESTROGEN; LEUCINE; SERINE; SEX HORMONE BINDING GLOBULIN; VALINE;

ADULT; ALLELE; ARTICLE; BONE DENSITY; CONTROLLED STUDY; DUAL ENERGY X RAY ABSORPTIOMETRY; ESTROGEN METABOLISM; ETHNIC DIFFERENCE; FEMALE; FEMUR NECK; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; IMMUNORADIOMETRIC ASSAY; LUMBAR SPINE; MAJOR CLINICAL STUDY; POSTMENOPAUSE; PYROSEQUENCING; RADIOIMMUNOASSAY;

ARYL HYDROCARBON HYDROXYLASES; BONE DENSITY; ESTROGENS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LEUCINE; MIDDLE AGED; POLYMORPHISM, GENETIC; RISK FACTORS; VALINE;

EID: 59749099034     PISSN: 87563282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bone.2008.09.018     Document Type: Article

References (39)

1. Slemenda C., Hui S.L., Longcope C., and Johnston C.C. Sex steroids and bone mass. A study of changes about the time of menopause. J. Clin. Invest. 80 5 (1987) 1261-1269
2. Barrett-Connor E., Mueller J.E., von Muhlen D.G., Laughlin G.A., Schneider D.L., and Sartoris D.J. Low levels of estradiol are associated with vertebral fractures in older men, but not women: the Rancho Bernardo study. J. Clin. Endocrinol. Metab. 85 1 (2000) 219-223
3. Adlercreutz H., Gorbach S.L., Goldin B.R., Woods M.N., Dwyer J.T., and Hamalainen E. Estrogen metabolism and excretion in Oriental and Caucasian women. J. Natl. Cancer Inst. 86 14 (1994) 1076-1082
4. Lippert T.H., Seeger H., and Mueck A.O. The impact of endogenous estradiol metabolites on carcinogenesis. Steroids 65 7 (2000) 357-369
5. Grodin J.M., Siiteri P.K., and MacDonald P.C. Source of estrogen production in postmenopausal women. J. Clin. Endocrinol. Metab. 36 2 (1973) 207-214
6. Fishman J., Bradlow H.L., and Gallagher T.F. Oxidative metabolism of estradiol. J. Biol. Chem. 235 (1960) 3104-3107
7. Bradlow H.L., and Telang N.T. Sepkovic DW, Osborne MP. 2-hydroxyestrone: the 'good' estrogen. J. Endocrinol. 150 Suppl (1996) S259-S265
8. Westerlind K.C., Gibson K.J., Malone P., Evans G.L., and Turner R.T. Differential effects of estrogen metabolites on bone and reproductive tissues of ovariectomized rats. J. Bone. Miner. Res. 13 6 (1998) 1023-1031
9. Muti P., Bradlow H.L., 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 11 6 (2000) 635-640
10. Osborne M.P., Bradlow H.L., Wong G.Y., and Telang N.T. Upregulation of estradiol C16 alpha-hydroxylation in human breast tissue: a potential biomarker of breast cancer risk. J. Natl. Cancer Inst. 85 23 (1993) 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. 15 12 (2000) 2513-2520
12. Napoli N., Villareal D.T., Mumm S., et al. Effect of CYP1A1 gene polymorphisms on estrogen metabolism and bone density. J. Bone Miner. Res. 20 2 (2005) 232-239
13. Martucci C.P., and Fishman J. P450 enzymes of estrogen metabolism. Pharmacol. Ther. 57 2-3 (1993) 237-257
14. Badawi A.F., Cavalieri E.L., and Rogan E.G. Role of human cytochrome P450 1A1, 1A2, 1B1, and 3A4 in the 2-, 4-, and 16alpha-hydroxylation of 17beta-estradiol. Metabolism 50 9 (2001) 1001-1003
15. Taioli E., Bradlow H.L., Garbers S.V., et al. Role of estradiol metabolism and CYP1A1 polymorphisms in breast cancer risk. Cancer Detect. Prev. 23 3 (1999) 232-237
16. Esteller M., Garcia A., Martinez-Palones J.M., Xercavins J., and Reventos J. Germ line polymorphisms in cytochrome-P450 1A1 (C4887 CYP1A1) and methylenetetrahydrofolate reductase (MTHFR) genes and endometrial cancer susceptibility. Carcinogenesis 18 12 (1997) 2307-2311
17. Watanabe J., Shimada T., Gillam E.M., et al. Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer. Pharmacogenetics 10 1 (2000) 25-33
18. Goodman M.T., McDuffie K., Kolonel L.N., et al. Case-control study of ovarian cancer and polymorphisms in genes involved in catecholestrogen formation and metabolism. Cancer Epidemiol. Biomarkers. Prev. 10 3 (2001) 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 92 2 (2001) 220-225
20. Zheng W., Xie D.W., Jin F., et al. Genetic polymorphism of cytochrome P450-1B1 and risk of breast cancer. Cancer Epidemiol. Biomarkers. Prev. 9 2 (2000) 147-150
21. Michnovicz J.J., Adlercreutz H., and Bradlow H.L. Changes in levels of urinary estrogen metabolites after oral indole-3-carbinol treatment in humans. J. Natl. Cancer Inst. 89 10 (1997) 718-723
22. Napoli N., Thompson J., Civitelli R., and rmamento-Villareal R.C. Effects of dietary calcium compared with calcium supplements on estrogen metabolism and bone mineral density. Am. J. Clin. Nutr. 85 5 (2007) 1428-1433
23. Armamento-Villareal R., Villareal D.T., Avioli L.V., and Civitelli R. Estrogen status and heredity are major determinants of premenopausal bone mass. J. Clin. Invest. 90 6 (1992) 2464-2471
24. Klug T.L., Bradlow H.L., and Sepkovic D.W. Monoclonal antibody-based enzyme immunoassay for simultaneous quantitation of 2- and 16 alpha-hydroxyestrone in urine. Steroids 59 11 (1994) 648-655
25. Szulc P., Hofbauer L.C., Heufelder A.E., Roth S., and Delmas P.D. Osteoprotegerin serum levels in men: correlation with age, estrogen, and testosterone status. J. Clin. Endocrinol. Metab. 86 7 (2001) 3162-3165
26. Clark P., Tesoriero L.J., Morton D.J., 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. 93 7 (2008 (Jul)) 2463-2465 Electronic Publication 2008 Jun 10
28. Cummings S.R., Black D.M., Nevitt M.C., et al. Bone density at various sites for prediction of hip fractures. The study of Osteoporotic Fractures Research Group. Lancet 341 8837 (1993) 72-75
29. Hanna I.H., Dawling S., Roodi N., Guengerich F.P., and Parl F.F. Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res. 60 13 (2000) 3440-3444
30. Paracchini V., Raimondi S., Gram I.T., et al. Meta- and pooled analyses of the cytochrome P-450 1B1 Val432Leu polymorphism and breast cancer: a HuGE-GSEC review. Am. J. Epidemiol. 165 2 (2007) 115-125
31. Gong G., and Haynatzki G. Association between bone mineral density and candidate genes in different ethnic populations and its implications. Calcif. Tissue Int. 72 2 (2003) 113-123
32. Lei S.F., Deng F.Y., Liu X.H., 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. 21 1 (2003) 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. 80 1 (2007) 15-20
34. Freedman M.L., Reich D., Penney K.L., et al. Assessing the impact of population stratification on genetic association studies. Nat. Genet. 36 4 (2004) 388-393
35. Wacholder S., Rothman N., and Caporaso N. Population stratification in epidemiologic studies of common genetic variants and cancer: quantification of bias. J. Natl. Cancer Inst. 92 14 (2000) 1151-1158
36. Sasaki M., Tanaka Y., Kaneuchi M., Sakuragi N., and 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. 63 14 (2003) 3913-3918
37. Spink B.C., Pang S., Pentecost B.T., and Spink D.C. Induction of cytochrome P450 1B1 in MDA-MB-231 human breast cancer cells by non-ortho-substituted polychlorinated biphenyls. Toxicol. In Vitro 16 6 (2002) 695-704
38. Nock N.L., 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. 16 6 (2007) 1236-1245
39. Santen R.J., Lee J.S., Wang S., et al. Potential role of ultra-sensitive estradiol assays in estimating the risk of breast cancer and fractures. Steroids 73 13 (2008) 1318-1321