Single nucleotide polymorphisms and haplotypes of the genes encoding the CYP1B1 in Korean women: No association with advanced endometriosis

Journal of Assisted Reproduction and Genetics

Volumn 24, Issue 7, 2007, Pages 271-277

  Cho, Yeon Jean ^a   Hur, Sung Eun ^b   Lee, Ji Young ^c   Song, In Ok ^a   Moon, Hye Sung ^d   Koong, Mi Kyoung ^a   Chung, Hye Won ^d,e  

^a Catholic Kwandong University   (South Korea)

^b Konkuk University School of Medicine   (South Korea)

^c Konyang University   (South Korea)

^d Ewha Womans University School of Medicine   (South Korea)

^e Mokdong Hospital   (South Korea)

Author keywords

CYP1B1; Endometriosis; Genetic polymorphism; Haplotype

Indexed keywords

ALANINE; ASPARTIC ACID; CYTOCHROME P450 1B1; SERINE; VALINE;

ARTICLE; CONTROLLED STUDY; ENDOMETRIOSIS; FEMALE; GENOTYPE; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; KOREA; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; ARYL HYDROCARBON HYDROXYLASES; ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; ENDOMETRIOSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; KOREA; LINKAGE DISEQUILIBRIUM; ODDS RATIO; OVARIAN CYSTS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 35348849304     PISSN: 10580468     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10815-007-9122-0     Document Type: Article

References (38)

1. Littman BA, Smotrich DB, Stillman RJ. Endometriosis. In: Becker KL (ed). Principles and practice of endocrinology and metabolism, 2nd. Philadelphia, J.B. Lippincott Company, 1995, pp. 906-9.
2. Prentice A, Randall BJ, Weddell A, Mcgill A, Henry L, Home CH, Thomas EJ. Ovarian steroid receptor expression in endometriosis and in two potential parent epithelia: Endometrium and mesothelium. Human Reprod 1992;7:1318-25.
3. Bergqvist A, Ferno M. Oestrogen and progesterone receptors in endometroitic tissue and endometrium: Comparison of different cycle phases and ages. Human Reprod 1993;8:2211-7.
4. Koninckx PR, Braet P, Kennedy SH, Barlow DH. Dioxin population and endometriosis in Belgium. Hum Reprod 1995;9:1001-2.
5. Mayani A, Barel S, Soback S, Almagor M. Dioxin concentration in women with endometriosis. Hum Reprod 1997;12:373-5.
6. Sutter TR, Tang YM, Hayes CL, Wo YY, Jabs EW, Li X, Yin H, Cody CW, Greenlee WF. Complete cDNA sequence of a human dioxin inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. J Biol Chem 1994;269:13092-9.
7. Shimada T, Watanabe J, Kawajiri K, Sutter TR, Guengerich FP, Gillan EM, Inoue K. Catalytic properties of polymorphic human cytochrome p450 1B1 variants. Carcinogenesis 1999;20:1607-13.
8. Bulun SE, Zeitoun KM, Kilic G. Expression of dioxin-related transactivating factors and target genes in human eutopic endometrial and endometriotic tissues. Am J Obstet Gynecol 2000;182:767-75.
9. Arvanitis DA, Koumantakis GE, Goumenou AG, Matalliotakis IM, Koumantakis EE, Spandidos DA. CYP1A1, CYP19, and GSTM1 polymorphisms increase the risk of endometriosis. Fertil Steril 2003;79:702-9.
10. Tang YM, Wo YY, Stewart J, Hawkins AL, Griffin CA, Sutter TR, Greenlee WF. Isolation and characterization of the human cytochrome p450 CYP1B1 gene. J Biol Chem 1996;271:28324-30.
11. Bailey LR, Roodi N, Dupont WD, Parl FF. Association of cytrochrome p450 1B1 (CYP1B1) polymorphisms with steroid receptor status in breast cancer. Cancer Res 1998;58:5038-41.
12. McLellan RA, Oscarson M, Hidestrand M, Leidvik B, Jonsson E, Otter C, Ingelman-Sundberg M. Characterization and functional analysis of two common human cytochrome P450 1B1 variants. Arch Biochem Biophys 2000;378:175-81.
13. Tanaka Y, Sasaki M, Kaneuchi M, Shiina H, Igawa M, Dahiya R. Polymorphism of the CYP1B1 gene have higher risk for prostate cancer. Biochem Biophys Res Commun 2002;296:820-6.
14. Watanabe J, Shimada T, Gillam EM, Ikuta T, Suemasu K, Higashi Y, Gotoh O, Kawajiri K. Association of CYP1B1 genetic polymorphisms with incidence to breast and lung cancer. Pharmacogenetics 2000;10:25-33.
15. McGrath M, Hankinson SE, Arbeitman L, Colditz GA, Hunter DJ, De Vivo I. Cytochrome P450 1B1 and catechol-O-methyltrans- ferase polymorphisms and endometrial cancer susceptibility. Carcinogenesis 2004;25:559-65.
16. Zheng W, Xie DW, Jin F, Cheng JR, Dai Q, Wen WQ, Shu X, Gao Y. Genetic polymorphism of cytochrome P450-1B1 and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 2000;9:147-50.
17. Brinton LA, Gridley G, Persson I, Baron J, Bergqvist A. Cancer risk after a hospital discharge diagnosis of endometriosis. Am J Obstet Gynecol 1997;176:572-9.
18. Ness RB, Modugno F. Endometriosis as a model for inflammation-hormone interactions in ovarian and breast cancers. Eur J Cancer. 2006 Apr;42(6):691-703. Epub 2006 Mar 13. Review.
19. Huber A, Keck CC, Hefler LA, Schneeberger C, Huber JC, Bentz EK, Tempfer CB. Ten estrogen-related polymorphisms and endometriosis: A study of multiple gene-gene interactions. Obstet Gynecol 2005;106:1025-31.
20. American Society for Reproductive Medicine Revised American Fertility Society for Reproductive Medicine classification of endometriosis. Fertil Steril 1996;67:817-21.
21. Haplotyper Program Department of Statistics Harvard University Boston, available from http://www.peoplefas.harvard.edu/∼junliu/Haplo.
22. Niu T, Qin ZS, Xu X, Liu JS. Bayesian haplotype inference for multiple linked single-nucleotide polymorphism. Am J Hum Genet 2002;70:158-69.
23. Zeitoun K, Takayama K, Sasano H, Suzuki T, Moghrabi N, Andersson S, Johns A, Meng L, Putman M, Carr B, Bulun SE. Deficient 17-beta-hydroxysteroid dehydrogenase type 2 expression in endometriosis: Failure to metabolize 17-beta-estradiol. J Clin Endocrinol Metab 1998;83:4474-80.
24. Wieser F, Wenzl R, Tempfer C, Worda C, Huber J, Schneeberger C. Catechol-o-methyltransferase polymorphism and endometriosis. J Assist Reprod Genet 2002;19:343-8.
25. Baranova H, Bothorishvilli R, Canis M, Albuisson E, Perriot S, Glowaczower E, Bruhat MA, Baranov V, Malet P. Glutathione S-transferase M1 gene polymorphism and susceptibility to endometriosis in a French population. Mol Hum Reprod 1997;3:775-80.
26. Hur SE, Lee JY, Moon HS, Chung HW. Polymorphisms of the genes encoding the GSTM1, GSTT1 and GSTP1 in Korean women: no association with endometriosis. Mol Hum Reprod 2005;11:15-9.
27. Baxter SW, Thomas EJ, Campbell IG. GSTM1 null polymorphism and susceptibility to endometriosis and ovarian cancer. Carcinogenesis 2001;22:63-6.
28. Hadfield RM, Manek S, Weeks DE, Mardon HJ, Barlow DH, Kennedy SH, And OXEGENE Collaborative Group. Linkage and association studies of the relationship between endometriosis and genes encoding the detoxification enzymes GSTM1, GSTT1 and CYP1A1. Mol Hum Reprod 2001;7:1073-8.
29. Tsuchiya Y, Nakajima M, Kyo S, Kanaya T, Inoue M, Yokoi T. Human CYP1B1 is regulated by estradiol via estrogen receptor. Cancer Res 2004;64:3119-25.
30. Hanna IH, Dwaling 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;60:3440-4.
31. Rylander-Rudqvist T, Werdren S, Granath R, Humphreys K, Ahlberg S, Weiderpass E, Oscarson M, Ingelman-Sundberg M, Persson I. Cytochrome P450 1B1 gene polymorphisms and postmenopausal breast cancer risk. Carcinogenesis 2003;24:1533- 9.
32. Lee KM, Abel J, Ko Y, Harth V, Park WY, Seo JS, Yoo KY, Choi JY, Shin A, Ahn SH, Noh DY, Hirvonen A, Kand D. Genetic polymophisms of cytochrome P450 19 and 1B1, alcohol use, and breast cancer risk in Korean Women. Br J Can 2003; 88:675-8.
33. Rylander-Rudqvist T, Werdren S, Jonasdottir G, Ahlberg S, Weiderpass E, Persson I, Ingelman-Sundberg M. Cytochrome P450 1B1 gene polymorphisms and postmenopausal endometrial cancer risk. Cancer Epidemiol Biomark Prev 2004;13:1515-20.
34. Shimada T, Hayes CL, Yamazaki H, Amin S, Hecht SS, Guengerich FP. Activation of chemically diverse procarcinogens by human cytochrome P-450 1B1. Cancer Res 1996;56:2979-84.
35. Van Duursen MB, Fernandez CR, Kocan T, Sanderson JT, Kieviet K, Van den Berg M. No effect of CYP1B1 Val432Leu polymorphism on CYP1B1 messenger RNA levels in an organochlorine-exposed population in Slovakia. Cancer Epidemiol Biomarkers Prev 2005;14(3):755-6.
36. Aklillu E, Oscarson M, Hidestrand M, Leidvik B, Otter C, Ingelman-Sundberg M. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. Mol Pharmacol 2002;61:586-94.
37. Sissung TM, Price DK, Sparreboom A, Figg WD. Pharmacogenetics and regulation of human cytochrome P450 1B1: Implications in hormone-mediated tumor metabolism and a novel target for therapeutic intervention. Mol Cancer Res. 2006;4(3):135- 50.
38. Bandiera S, Weidlich S, Harth V, Broede P, Ko Y, Friedberg T. Proteasomal degradation of human CYP1B1: Effect of the Asn453Ser polymorphism on the post-translational regulation of CYP1B1 expression. Mol Pharmacol 2005;67(2):435-43.