Association of CYP17, CYP19, CYP1B1, and COMT Polymorphisms with Serum and Urinary Sex Hormone Concentrations in Postmenopausal Women

Cancer Epidemiology Biomarkers and Prevention

Volumn 13, Issue 1, 2004, Pages 94-101

  Tworoger, Shelley S ^a,b   Chubak, Jessica ^a,b   Aiello, Erin J ^a,c   Ulrich, Cornelia M ^a,b   Atkinson, Charlotte ^a   Potter, John D ^a,b   Yasui, Yutaka ^a   Stapleton, Patricia L ^d   Lampe, Johanna W ^a,b   Farin, Federico M ^d   Stanczyk, Frank Z ^e   McTiernan, Anne ^a,b,f  

^a Fred Hutchinson Cancer Research Center   (United States)

^b UNIVERSITY OF WASHINGTON   (United States)

^c CENTER FOR HEALTH STUDIES   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2 HYDROXYESTRONE; ANDROGEN; AROMATASE; CATECHOL METHYLTRANSFERASE; CYTOCHROME P450; CYTOCHROME P450 17; CYTOCHROME P450 1B1; ESTRADIOL; ESTROGEN; ESTRONE; SEX HORMONE; SEX HORMONE BINDING GLOBULIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BODY MASS; CANCER RISK; DNA POLYMORPHISM; ESTROGEN BLOOD LEVEL; EXERCISE; FEMALE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HORMONAL THERAPY; HORMONE BLOOD LEVEL; HUMAN; NORMAL HUMAN; POSTMENOPAUSE; PRIORITY JOURNAL; SERUM; SITTING; UNTRANSLATED REGION;

AGED; ALLELES; AROMATASE; ARYL HYDROCARBON HYDROXYLASES; BODY MASS INDEX; BREAST NEOPLASMS; CATECHOL O-METHYLTRANSFERASE; CONFIDENCE INTERVALS; ESTROGENS; FEMALE; GENOTYPE; GONADAL STEROID HORMONES; HUMANS; MIDDLE AGED; POLYMORPHISM, GENETIC; POSTMENOPAUSE; RISK; STEROID 17-ALPHA-HYDROXYLASE;

EID: 9144240392     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-03-0026     Document Type: Article

References (42)

1. Hankinson, S. E., Willett, W. C., Manson, J. E., Colditz, G. A., Hunter, D. J., Spiegelman, D., Barbieri, R. L., and Speizer, F. E. Plasma sex steroid hormone levels and risk of breast cancer in postmenopausal women. J. Natl. Cancer Inst. (Bethesda), 90: 1292-1299, 1998.
2. Endogenous sex hormones and breast cancer in postmenopausal women: reanalysis of nine prospective studies. J. Natl. Cancer Inst. (Bethesda), 94: 606-616, 2002.
3. Potischman, N., Swanson, C. A., Siiteri, P., and Hoover, R. N. Reversal of relation between body mass and endogenous estrogen concentrations with menopausal status. J. Natl. Cancer Inst. (Bethesda), 88: 756-758, 1996.
4. Morimoto, L. M., White, E., Chen, Z., Chlebowski, R. T., Hays, J., Kuller, L., Lopez, A. M., Manson, J., Margolis, K. L., Muti, P. C., Stefanick, M. L., and McTiernan, A. Obesity, body size, and risk of postmenopausal breast cancer: the Women's Health Initiative (United States). Cancer Causes Control, 13: 741-751, 2002.
5. Bernstein. L. Epidemiology of endocrine-related risk factors for breast cancer. J. Mammary Gland Biol. Neoplasia, 7: 3-15, 2002.
6. Coughlin, S. S., and Piper, M. Genetic polymorphisms and risk of breast cancer. Cancer Epidemiol. Biomark. Prev., 8: 1023-1032, 1999.
7. Dunning, A. M., Healey, C. S., Pharoah, P. D., Teare, M. D., Ponder, B. A., and Easton, D. F. A systematic review of genetic polymorphisms and breast cancer risk. Cancer Epidemiol. Biomark. Prev., 8: 843-854, 1999.
8. Kristensen, V. N., and Borresen-Dale, A. L. Molecular epidemiology of breast cancer: genetic variation in steroid hormone metabolism. Mutat. Res., 462: 323-333, 2000.
9. Carey, A. H., Waterworth, D., Patel, K., White, D., Little, J., Novelli, P., Franks, S., and Williamson, R. Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17. Hum. Mol. Genet., 3: 1873-1876, 1994.
10. Haiman, C. A., Hankinson, S. E., Spiegelman, D., Colditz, G. A., Willett, W. C., Speizer, F. E., Kelsey, K. T., and Hunter, D. J. The relationship between a polymorphism in CYP17 with plasma hormone levels and breast cancer. Cancer Res., 59: 1015-1020, 1999.
11. Haiman, C. A., Hankinso, S. E., Colditz, G. A., Hunter, D. J., and De Vivo, I. A polymorphism in CYP17 and endometrial cancer risk. Cancer Res., 61: 3955-3960, 2001.
12. Marszalek, B., Lacinski, M., Babych, N., Capla, E., Biernacka-Lukanty, J., Warenik-Szymankiewicz, A., and Trzeciak, W. H. Investigations on the genetic polymorphism in the region of CYP17 gene encoding 5′-UTR in patients with polycystic ovarian syndrome. Gynecol. Endocrinol., 15: 123-128, 2001.
13. Berstein, L. M., Imyanitov, E. N., Gamajunova, V. B., Kovalevskij, A. J., Kuligina, E., Belogubova, E. V., Buslov, K. G., Karpova, M. B., Togo, A. V., Volkov, O. N., and Kovalenko, I. G. CYP17 genetic polymorphism in endometrial cancer: are only steroids involved? Cancer Lett., 180: 47-53, 2002.
14. Polymeropoulos, M. H., Xiao, H., Rath, D. S., and Merril, C. R. Tetranucleotide repeat polymorphism at the human aromatase cytochrome P-450 gene (CYP19). Nucleic Acids Res., 19: 195, 1991.
15. Kristensen, V. N., Andersen, T. I., Lindblom, A., Erikstein, B., Magnus, P., and Borresen-Dale, A. L. A rare CYP19 (aromatase) variant may increase the risk of breast cancer. Pharmacogenetics, 8: 43-48, 1998.
16. Kurosaki, K., Saitoh, H., Oota, H., Watanabe, Y., Kiuchi, M., and Ueda, S. Combined polymorphism associated with a 3-bp deletion in the 5′-flanking region of a tetrameric short tandem repeat at the CYP19 locus. Nippon Hoigaku Zasshi, 51: 191-195, 1997.
17. Haiman, C. A., Hankinson, S. E., Spiegelman, D., De Vivo, I., Colditz, G. A., Willett, W. C., Speizer, F. E., and Hunter. D. J. A tetranucleotide repeat polymorphism in CYP19 and breast cancer risk. Int. J. Cancer, 87: 204-210, 2000.
18. Berstein, L. M., Imyanitov, E. N., Suspitsin, E. N., Grigoriev, M. Y., Sokolov, E. P., Togo, A., Hanson, K. P., Poroshina, T. E., Vasiljev, D. A., Kovalevskij, A. Y., and Gamajunova, V. B. CYP19 gene polymorphism in endometrial cancer patients. J. Cancer Res. Clin. Oncol., 127: 135-138, 2001.
19. Probst-Hensch, N. M., Ingles, S. A., Diep, A. T., Haile, R. W., Stanczyk, F. Z., Kolonel, L. N., and Hendersor, B. E. Aromatase and breast cancer susceptibility. Endocr. Relat. Cancer, 6: 165-173, 1999.
20. Hayes, C. L., Spink, D. C., Spink, B. C., Cao, J. Q., Walker, N. J., and Sutter, T. R. 17β-Estradiol hydroxylation catalyzed by human cytochrome P450 1B1. Proc. Natl. Acad. Sci. USA, 93: 9776-9781, 1996.
21. Bailey, L. R., Roodi, N., Dupont, W. D., and Parl, F. F. Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. Cancer Res., 58: 5038-5041, 1998.
22. Shimada, T., Watanabe, J., Kawajiri, K., Sutter, T. R., Guengerich, F. P., Gillam, E. M., and Inoue, K. Catalytic properties of polymorphic human cytochrome P450 1B1 variants. Carcinogenesis (Lond.), 20: 1607-1613, 1999.
23. 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: 3440-3444, 2000.
24. Li, D. N., Seidel, A., Pritchard, M. P., Wolf, C. R., and Friedberg, T. Polymorphisms in P450 CYP1B1 affect the conversion of estradiol to the potentially carcinogenic metabolite 4-hydroxyestradiol. Pharmacogenetics, 10: 343-353, 2000.
25. Aklillu, E., Oscarson, M., Hidestrand, M., Leidvik, B., Otter, C., and Ingelman-Sundberg, M. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. Mol. Pharmacol., 61: 586-594, 2002.
26. De Vivo. I., Hankinson, S. E., Li, L., Colditz, G. A., and Hunter, D. J. Association of CYP1B1 polymorphisms and breast cancer risk. Cancer Epidemiol. Biomark. Prev., 11: 489-492, 2002.
27. Yager, J. D., and Liehr, J. G. Molecular mechanisms of estrogen carcinogenesis. Annu. Rev. Pharmacol. Toxicol., 36: 203-232, 1996.
28. Lotta, T., Vidgren, J., Tilgmann, C., Ulmanen, I., Melen, K., Julkunen, I., and Taskinen, J. Kinetics of human soluble and membrane-bound catechol O-methyltransferase: a revised mechanism and description of the thermolabile variant of the enzyme. Biochemistry, 34: 4202-4210, 1995.
29. Dawling, S., Roodi, N., Mernaugh, R. L., Wang, X., and Parl, F. F. Catechol-O-methyltransferase (comt)-mediated metabolism of catechol estrogens: comparison of wild-type and variant comt isoforms. Cancer Res., 61: 6716-6722, 2001.
30. McTiernan, A., Ulrich, C. M., Yancey, D., Slate, S., Nakamura, H., Oestreicher, N., Bowen, D., Yasui, Y., Potter, J., and Schwartz, R. The Physical Activity for Total Health (PATH) Study: rationale and design. Med. Sci. Sports Exerc., 31: 1307-1312, 1999.
31. Tworoger, S. S., Yasui, Y., Ulrich, C. M., Nakamura, H., LaCroix, K., Johnston, R., and McTiernan, A. Mailing strategies and recruitment into an intervention trial of the exercise effect on breast cancer biomarkers. Cancer Epidemiol. Biomark. Prev., 11: 73-77, 2002.
32. Patterson, R. E., Kristal, A. R., Tinker, L. F., Carter, R. A., Bolton, M. P., and Agurs-Collins, T. Measurement characteristics of the Women's Health Initiative food frequency questionnaire. Ann. Epidemiol., 9: 178-187, 1999.
33. Goebelsmann, U., Bernstein, G. S., Gale, J. A., Kletzky, O. A., Nakamura, R. M., Coulson, A. H., and Korelitz, J. J. Serum gonadotropin, testosterone, estradiol and estrone levels prior to and following bilateral vasectomy. In: I. H. Lepow and R. Crozier (eds.), Vasectomy: Immunologic and Pathophysiologic Effects in Animals and Man, p. 165. New York: Academic Press, 1979.
34. Vermeulen, A., Verdonck, L., and Kaufman, J. M. A critical evaluation of simple methods for the estimation of free testosterone in serum. J. Clin. Endocrinol. Metab., 84: 3666-3672, 1999.
35. Sodergard, R., Backstrom, T., Shanbhag, V., and Carstensen, H. Calculation of free and bound fractions of testosterone and estradiol-17β to human plasma proteins at body temperature. J. Steroid Biochem., 16: 801-810, 1982.
36. Rinaldi, S., Geay, A., Dechaud, H., Biessy, C., Zeleniuch-Jacquotte, A., Akhmedkhanov, A., Shore, R. E., Riboli, E., Toniolo, P., and Kaaks, R. Validity of free testosterone and free estradiol determinations in serum samples from postmenopausal women by theoretical calculations. Cancer Epidemiol. Biomark. Prev., 11: 1065-1071, 2002.
37. Bradlow, H. L., Sepkovic, D. W., Klug, T., and Osborne, M. P. Application of an improved ELISA assay to the analysis of urinary estrogen metabolites. Steroids, 63: 406-413, 1998.
38. Jernstrom, H., Vesprini, D., Bradlow, H. L., and Narod, S. A. Re: CYP17 promoter polymorphism and breast cancer in Australian women under age forty years. J. Natl. Cancer Inst. (Bethesda), 93: 554-555, 2001.
39. Kristensen, V. N., Harada, N., Yoshimura, N., Haraldsen, E., Lonning, P. E., Erikstein, B., Karesen, R., Kristensen, T., and Borresen-Dale, A. L. Genetic variants of CYP19 (aromatase) and breast cancer risk. Oncogene, 19: 1329-1333, 2000.
40. Auvray, P., Nativelle, C., Bureau, R., Dallemagne, P., Seralini, G. E., and Sourdaine, P. Study of substrate specificity of human aromatase by site directed mutagenesis. Eur. J. Biochem., 269: 1393-1405, 2002.
41. Purohit, A., and Oakey, R. E. Evidence for separate sites for aromatisation of androstenedione and 16α-hydroxyandrostenedione in human placental microsomes. J. Steroid Biochem., 33: 439-448, 1989.
42. Thompson, P. A., and Ambrosone, C. Molecular epidemiology of genetic polymorphisms in estrogen metabolizing enzymes in human breast cancer. J. Natl. Cancer Inst. (Monogr.), 125-134, 2000.