Chinese Bulletin of Life Sciences. Advances of cytochrome P4501B1 gene polymorphisms and their susceptibility to breast cancer

Μέγεθος: px

Εμφάνιση ξεκινά από τη σελίδα:

Download "Chinese Bulletin of Life Sciences. Advances of cytochrome P4501B1 gene polymorphisms and their susceptibility to breast cancer"

Ναχώρ Κούνδουρος
5 χρόνια πριν
Προβολές:

1 Chinese Bulletin of Life Sciences Vol. 19, No. 6 Feb., (2007) P4501B1 ( ) P450(cytochrome, CYP)1B1 P450 CYP1B1 CYP1B1 P4501B1 Q346.5 Q559.5 A Advances of cytochrome P4501B1 gene polymorphisms and their susceptibility to breast cancer LIU Chunlian, JIAO Haiyan * (Department of Medical Genetics and Cell Biology, Ningxia Medical College, Yinchuan , China) Abstract: Cytochrome P450(CYP)1B1 is an important metabolic oxidase of P450 family. It distributes widely in extrahepatic tissues. The metabolism of CYP1B1 is regulated by exogenous carcinogens, estrogens and other factors. The CYP1B1 which function as the susceptible genes to breast cancer has many genetic polymorphisms. The polymorphisms, regulation mechanism and relation to breast cancer are reviewed in this paper. Key words: cytochrome P4501B1 polymorphisms breast cancer P450(cytochrome P450, CYP) CYP1B1 CYP1 (1990 ) (1991 ) CYP1B1 17α- CYP1B1 mrna CYP1B1 1 CYP1B1 CYP1B1 2p21 22 DNA 12 kb 3 2, mrna 5.2 kb 2 5' ( P450 1) bp 543 [1] CYP1B1 CYP CYP1B1 23 CYP1B1*1 SNPs CYP1B1*2 CYP1B1* (NZ0535) (1981 ) (1965 ) *, jiaohy@ nxmc.edu.cn

2 38 19 CYP1B1*4 CYP1B1*5 CYP1B1*6 CYP1B1*7 6 5 Arg48Gly(48C G) Ala119Ser(119G T) Leu432Val(432C G) Asn 453Ser(453A G) Ala443Gly(443C G) 51% 50% 53% 2% 7% CYP1B1*1~ CYP1B1*7 8% 37% 39% 2% 0.7% 6% 7% [2] CYP1B1*1 CYP1B1*2 CYP1B1*3 CYP1B1*4 CYP1B1*6 CYP1B1*7 14.3% 25.5% 38.8% 18.1% 0.4% 2.6% [3] ( 1) 3 453A G 443C G 432C G 432C G G/G G/C C/C 6.5% 23.0% 70.5% 14.5% 36.0% 49.5% 12.5% 34.8% 52.7% 2.6% 25.0% 72.4% CYP1B1 Bardiera [4] CYP1B1 COS-1 Ser453 CYP1B1*4 Asn % CYP1B1*4 CYP1B1*1 CYP1B1*4 1.6h CYP1B1*1 4.8h CYP1B1*4 CYP1B1*4 CYP1B1* CYP1B1 (aryl hydrocarbon receptor, AhR) AhR (AhR nuclear translocator, ARNT) (xenobiotic responsive elements, XREs) CYP1B1 5' CYP1B1 XREs Sp1( 824) CYP1B1 ( PAHs) AhR CYP1B1 AhR AhR Hsp90 Hsp90 AhR AhR DNA PAHs AhR Hsp90 ARNT -AhR/ ARNT XREs CYP1B1 XREs [5] CYP1B1 DNA DNA ( 2) Landi [6] CYP1B1 2 CYP1B1

3 1 P4501B1 39 TCDD (2, 3, 7, 8-tetrachlorodibenzo-p-dioxin) 121 CYP1B1 432C G 48C G 119G T 453A G 85.2% 49.6% 49.6% 28.7% RT-PCR 10 nmol L -1 TCDD CYP1B1 432C G mrna P450 TCDD Taylor [7] RNAi p300-2(src-2) CYP1B1 TCDD TCDD AhR CYP1B1 CYP1B1 MCF-7 CYP1B1 (TS) (B[a]P) Port [8] Western Northern-blotting CYP1B1 mrna CYP1B 1 mrna CYP1B1 mrna (P<0.05) PAH Spink [9] NaAsO 2 B[a]P T-47D CYP1A1 CYP1B1 B[a]P h 48h 10 µmol L -1 NaAsO % 92% B[a]P CYP1A1 CYP1B1 mrnas NaAsO 2 I mrna NaAsO 2 B[a]P T-47D CYP1A1 CYP1B1 2.2 CYP1B1 RT-PCR ER MCF-7 10nmol L -1 E 2 12 h CYP1B1 mrna CYP1B MCF-7 E 2 7 CYP1B (estrogen response element, ERE) ER ERE CYP1B1 E 2 CYP1B1 ER [10] E 2 E 2 /ER CYP1B1 ERE E 2 CYP1B1 4- (4-OH -E 2 ) DNA - E E DNA DNA ( 3) 17α- (17α-E 2 ) CYP1B1 2/4-OH-E 2 C-16α 16α-OH-E 2 CYP1B1 P450 Hanna [11] CYP1B1 4-OH-E 2 2-OH-E 2 16α-OH- 3 CYP1B1

4 40 19 E 2 CYP1B1 4-OH-E CYP1B1 CYP1B1 Dawling [12] CYP1B1 E 2 E 2 E 2 2-MeOE 2 2-OH-3MeOE 2 2- OHE 2 4-MeOE 2 4-OHE 2 E 2 E 2 E 2 CYP1B1 2-OH-3MeOE 2 > 2-MeOE 2 >4-MeOE 2 E 2 CYP1B1 E 2 DNA 2.3 AhR-ER AhR- ER TCDD (1) TCDD CYP1B1 (2) AhR ER (3) AhR /ER ERE (4) TCDD ER (5) TCDD ER ER Takemoto [13] CYP1B1 AhR TCDD TCDD AhR CYP1B1 α (ERα) AhR Spink [14] MCF-7 RT-PCR 1nmol L -1 E 2 TCDD E 2 4, 2-OH- E 2 CYP1B1 CYP1A1 mrna (9 12 ) E 2 AhR ERα mrna AhRmRNA ARNT mrna MCF-7 AhR CYP1B1 CYP1A1 AhR Husbeck Powis [15] 1n mol L -1 E 2 TCDD 4-/2- CYP1B1/1A1mRNA E 2 AhR AH -1 (TRX-1) AhR/ARNT TCDD CYP1A1 CYP1B1 2.4 camp CYP1B1 P450 camp AhR [16] Tsuchiya [17] CYP1B1-1(SF-1) camp (CREB) SF-1 CYP1B1 SF-1a ( 1722) SF-1b ( 2474) SF-1 SF-1 K(PKA) SF-1a SF-1b pgl3 ( 2623/+25) PKA XRE CYP1B1 PKA 3 CYP1B1 Zheng [18] PCR-RFLP 432C G CC (P 0.06) Leu /Leu Val/ Val 2~3 (95 CI ) (OR % CI ) (OR % CI ) Kocabas [19] 432C G BMI OR 2.32 CI BMI 24 kg m -2 Ahsan [20] CYP1B1*4 CYP1B1* G Rudqvist [21] CYP1B1 SNP CYP1B1*1 CYP1B1*2 CYP1B1*3 CYP1B1*4 8.7% 29.3% 44.4% 17.5%, CYP1B1 4, CYP1B1*3/*3 (OR %CI )

5 1 P4501B1 41 CYP1B1 De Vivo [22] - CYP1B1 V432L (OR 1, CI ) A453S(OR 0.8, CI ) V/V ER (P=0.03) Leu Ser Thyagarajan [23] - CYP1B1V432L BMI HRT CYP1B1V432L BRCA1 BRCA2 CYP1B1 Chun [24] (2, 4,3',5'- tetramethoxystilbene, TMS) CYP1B1 TMS CYP1B1 3,5,4',- ( ) (3,5,4'- trihydroxystilbene, Resveratrol) TCDD AhR DNA CYP1B1 (MCF-10A) DNA (reactive oxygen species, ROS) CYP1B1 [25] [1] Saaski K, Tanaka Y, Kaneuchi M, et al. CYP1B1 gene polymorphisms have higher risk for endometrial cancer, and positive correlations with estrogen receptor α and estrogen receptor β expressions. Cancer Res, 2003, 63(14): [2] Aklillu E, Oscarson M, Hidestrand M, et al. Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. Mol Pharmacol, 2002, 61(3): [3] Aklillu E, Ovrebo S, Botnen I V, et al. Characterization of common CYP1B1 variants with different capacity for benzo [a]pyrene-7,8- dihydrodiol epoxide formation from benzo [a] pyrene. Cancer Res, 2005, 65(12): [4] Bardiera S, Weidlich S, Harty V, et al. Proteasomal degradation of human CYP1B1: effect of the Asn453Ser polymorphism on the post- translational regulation of CYP1B1 expression. Mol Pharmacol, 2005, 67(2): [5] Tsuchiya Y, Nakajimu M, Yokoi T. Critical enhancer region to which AhR/ARNT and Sp1 bind in the human CYP1B1 gene. J Biochem (Tokyo), 2003, 133(5): [6] Landi M T, Bergen A W, Baccarelli A, et al. CYP1A1 and CYP1B1 genotypes, haplotypes, and TCDD-induced gene expression in subjects from Seveso, Italy. Toxicol, 2005, 207(2): [7] Taylor R T, Wang E, Zhang R X, et al. Dioxin-induced transcriptional regulation of CYP1A1 and CYP1B1 by the aryl hydrocarbon receptor complex. Proc Amer Assoc Cancer Res, 2006, 47(10): [8] Port J L, Yamaguchi K, Du B H, et al. Tobacco smoke induces CYP1B1 in the aerodigestive tract. Carcinogenesis, 2004, 25(11): [9] Spink D C, Katz B H, Hussain M M, et al. Induction of CYP1A1 and CYP1B1 in T-47D human breast cancer cells by benzo[a]pyrene is diminished by arsenite. Drug Metab Dispos, 2002, 30(3): [10] Tsuchiya Y, Nakajima M, Kyo S, et al. Human CYP1B1 is regulated by estradiol via estrogen receptor. Cancer Res, 2004, 64(9): [11] Hanna I H, Dawling S, Roodi N, et al. Cytochrome P4501B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res, 2000, 60(13): [12] Dawling S, Roodi N, Parl F F. Methoxyestrogens exert feedback inhibition on cytochrome P4501A1 and 1B1. Cancer Res, 2003, 63(12): [13] Takemoto K, Nakajima M, Fujiki Y, et al. Role of the arylhydrocarbon receptor and Cyp1b1 in the antiestrogenic activity of 2,3,7,8- tetrachlorodibenzo-p- dioxin. Arch Toxicol, 2004, 78(6): [14] Spink D C, Katz B H, Hussain M M, et al. Estrogen regulates Ah responsiveness in MCF-7 breast cancer cells. Carcinogensis, 2003, 24(12): [15] Husbeck B, Powis G. The redox protein thioredoxin-1 regulates the constitutive and inducible expression of the estrogen metabolizing cytochromes P4501B1 and 1A1 in MCF-7

6 42 19 human breast cancer cells. Carcinogenesis, 2002, 23(10): [16] Zheng W C, Jefcoate C R. Steroidogenic factor-1 interacts with camp response element-binding protein to mediate camp stimulation of CYP1B1 via a far upstream enhancer. Mol Pharmacol, 2005, 67(2): [17] Tsuchiya Y, Nakajima M, Takagi S, et al. Binding of steroidogenic factor-1 to the regulatory region might not be critical for transcriptional regulation of the human CYP1B1 gene. J Biochem, 2006, 139(3): [18] Zheng W, Xie D W, Jin F, et al. Genetic polymorphism of cytochrome P450 1B1 and risk of breast cancer. Cancer Epidemiol Biomarkers Prev, 2000, 9(2): [19] Kocabas N A, Sardas S, Cholerton S, et al. Cytochrome P450 CYP1B1 and catechol O-methyltransferase(COMT) genetic polymorphisms and breast cancer susceptibility in a Turkish population. Arch Toxicol, 2002, 76(11): [20] Ahsan H, Chen Y, Whittemore A S, et al. A family-based genetic association study of variants in estrogen-metabolism genes COMT and CYP1B1 and breast cancer risk. Breast Cancer Res Treat, 2004, 85 (2): [21] Rudqvist T R, Wedren S, Granath F, et al. Cytochrome P4501B1 gene polymorphisms and postmenopausal breast cancer risk. Carcinogenesis, 2003, 24(9): [22] De Vivo I, Hankinson S E, Li L S, et al. Association of CYP1B1 polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev, 2002, 11(5): [23] Thyagarajan B, Brott M, Mink P, et al. CYP1B1 and CYP19 gene polymorphisms and breast cancer incidence: no association in the ARIC study. Cancer Lett, 2004, 207(2): [24] Chun Y J, Lee S K, Kim M Y, et al. Modulation of human cytochrome P450 1B1 expression by 2,4,3',5'- tetramethoxystilbene. Drug Metab Dispos, 2005, 33(12): [25] Chen Z H, Hurh Y J, Na H K, et al. Resveratrol inhibits TCDD-induced expression of CYP1A1 and CYP1B1 and catechol estrogen-mediated oxidative DNA damage in cultured human mammary epithelial cells. Carcinogenesis, 2004, 25(10): Plant Genomics and Proteomics B5 [ ] C.A. (C.A.Cullis) ( ) DNA (Plant Genomics and Proteomics) 2004 John Wiley & Sons Inc.,, -

Σχετικά έγγραφα

coronary heart disease CHD 40% [1] atherosclero- sis AS 52.27±5.3 2~6. / polycyclic aromatic hydrocarbons PAHs

coronary heart disease CHD 40% [1] atherosclero- sis AS 52.27±5.3 2~6. / polycyclic aromatic hydrocarbons PAHs 140 1674-6309 2017 02-0140-04 1 2 1 AhR rs2066853-205 190 - AS-PCR AhR rs2066853 AhR rs2066853 χ 2 AhR rs2066853 OR 95%CI AhR rs2066853 AA AG GG χ 2 =6.48 P