Abstract
Purpose
The aim of the study was to evaluate the association of CYP1A1 and CYP1B1 polymorphisms with uterine leiomyoma in Chinese women.
Methods
We investigated 100 women with clinically diagnosed uterine leiomyoma and 110 healthy normal subjects from Chinese women. The genetic distribution of two CYP1A1 polymorphisms at MspI, Ile462Val and four CYP1B1 polymorphisms at Arg48Gly, Ala119Ser, Leu432Val, Asp449Asp were analyzed by polymerase chain reaction–restriction fragment length polymorphism and DNA sequencing method.
Results
All the SNPs showed polymorphisms in Chinese women. The genotype A/G and the allele G on Ile462Val was significantly different between uterine leiomyoma patients and controls (P < 0.05).
Conclusion
These results suggest that the genotype of CYP1A1 Ile462Val was associated with the increased risk of uterine leiomyomas in Chinese women.
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References
Buttram VC Jr, Reiter RC. Uterine leiomyomata: etiology, symptomatology, and management. Fertil Steril. 1981;36:433–45.
Walker CL, Stewart EA. Uterine fibroids: the elephant in the room. Science 2005;308:1589–92. doi:10.1126/science.1112063.
Lethaby A, Vollenhoven B. Fibroids (uterine myomatosis, leiomyomas). Clin Evid. 2005;14:2264–82.
Maruo T, Ohara N, Wang J, Matsuo H. Sex steroidal regulation of uterine leiomyoma growth and apoptosis. Hum Reprod Updat. 2004;10:207–20. doi:10.1093/humupd/dmh019.
Jakimiuk AJ, Bogusiewicz M, Tarkowski R, Dziduch P, Adamiak A, Wróbel A, et al. Estrogen receptor alpha and beta expression in uterine leiomyomas from premenopausal women. Fertil Steril. 2004;82:1244–9. doi:10.1016/j.fertnstert.2004.02.130.
Hsieh YY, Chang CC, Tsai FJ, Lin CC, Tsai CH. T allele for VEGF-460 gene polymorphism at 5′-untranslated region is associated with higher susceptibility of leiomyoma. Biochem Genet. 2008;46:356–61. doi:10.1007/s10528-008-9150-1.
Morikawa J, Yoshida S, Kennedy S, Takemura N, Sugimoto M, Kitao K, et al. Association study between catechol-O-methyltransferase polymorphisms and uterine leiomyomas in a Japanese population. Clin Exp Obstet Gynecol. 2008;35:35–40.
Nishimura E, Baracat EC, Silva ID. Estrogen receptor alpha polymorphism and susceptibility to uterine leiomyoma. Steroids 2006;71:960–5. doi:10.1016/j.steroids.2006.07.005.
Stiborová M, MartÃnek V, Rýdlová H, Koblas T, Hodek P. Expression of cytochrome P450 1A1 and its contribution to oxidation of a potential human carcinogen 1-phenylazo-2-naphthol (Sudan I) in human livers. Cancer Lett. 2005;220:145–54. doi:10.1016/j.canlet.2004.07.036.
Somner J, McLellan S, Cheung J, Mak YT, Frost ML, Knapp KM, et al. Polymorphisms in the P450 c17 (17-hydroxylase/17,20-lyase) and P450 c19 (aromatase) genes: association with serum sex steroid concentrations and bone mineral density in postmenopausal women. J Clin Endocrinol Metab. 2004;89:344–51. doi:10.1210/jc.2003-030164.
Sowers MR, Wilson AL, Kardia SR, Chu J, McConnell DS. CYP1A1 and CYP1B1 polymorphisms and their association with estradiol and estrogen metabolites in women who are premenopausal and perimenopausal. Am J Med. 2006;119:S44–51. doi:10.1016/j.amjmed.2006.07.006.
Corchero J, Pimprale S, Kimura S, Gonzalez FJ. Organization of the CYP1A cluster on human chromosome 15: implications for gene regulation. Pharmacogenetics 2001;11:1–6. doi:10.1097/00008571-200102000-00001.
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. doi:10.1016/S0015-0282(02)04817-3.
Watanabe J, Shimada T, Gillam EM, Ikuta T, Suemasu K, Higashi Y, et al. Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer. Pharmacogenetics 2000;10:25–33. doi:10.1097/00008571-200002000-00004.
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;63:3913–8.
Aktas D, Guney I, Alikasifoglu M, Yüce K, Tuncbilek E, Ayhan A. CYP1A1 gene polymorphism and risk of epithelial ovarian neoplasm. Gynecol Oncol. 2002;86:124–8. doi:10.1006/gyno.2002.6720.
Napoli N, Villareal DT, Mumm S, Halstead L, Sheikh S, Cagaanan M, et al. Effect of CYP1A1 gene polymorphisms on estrogen metabolism and bone density. J Bone Miner Res. 2005;20:232–9. doi:10.1359/JBMR.041110.
Zhou XJ, Cen XJ, Lu DR. Distribution of the CYP1A1 polymorphisms in Shanghai population. J Kunming Teachers Coll. 2004;26:53–8.
Gallegos-Arreola MP, González-GarcÃa JR, Figuera LE, Puebla-Pérez AM, Delgado-Lamas JL, Zúñiga-González GM. Distribution of CYP1A12A polymorphism in adult patients with acute lymphoblastic leukemia in a Mexican population. Blood Cells Mol Dis. 2008;41:91–4. doi:10.1016/j.bcmd.2007.12.001.
Hsieh YY, Chang CC, Tsai FJ, Lin CC, Yeh LS, Peng CT. Androgen receptor trinucleotide polymorphism in leiomyoma. J Assist Reprod Genet. 2004;21:453–7. doi:10.1007/s10815-004-8762-6.
Yager JD, Liehr JG. Molecular mechanisms of estrogen carcinogenesis. Annu Rev Pharmacol Toxicol. 1996;36:203–32. doi:10.1146/annurev.pa.36.040196.001223.
Newbold RR, Liehr JG. Induction of uterine adenocarcinoma in CD-1 mice by catechol estrogens. Cancer Res. 2000;60:235–7.
Michnovicz JJ, Rosenberg DW. Oxidative metabolism of estrogens in rat intestinal mitochondria. Biochem Pharmacol. 1992;43:1847–52. doi:10.1016/0006-2952(92)90720-4.
Hayashi S, Watanabe J, Nakachi K, Kawajiri K. Genetic linkage of lung cancer-associated MspI polymorphisms with amino acid replacement in the heme binding region of the human cytochrome P450IA1 gene. J Biochem. 1991;110:407–11.
Crofts F, Cosma GN, Currie D, Taioli E, Toniolo P, Garte SJ. A novel CYP1A1 gene polymorphism in African-Americans. Carcinogenesis 1993;14:1729–31. doi:10.1093/carcin/14.9.1729.
Cascorbi I, Brockmöller J, Roots IA. C4887A polymorphism in exon 7 of human CYP1A1: population frequency, mutation linkages, and impact on lung cancer susceptibility. Cancer Res. 1996;56:4965–9.
Fotsis T, Zhang Y, Pepper MS, Adlercreutz H, Montesano R, Nawroth PP, et al. The endogenous oestrogen metabolite 2-methoxyoestradiol inhibits angiogenesis and suppresses tumour growth. Nature 1994;368:237–9. doi:10.1038/368237a0.
Cushman M, He HM, Katzenellenbogen JA, Lin CM, Hamel E. Synthesis, antitubulin and antimitotic activity, and cytotoxicity of analogs of 2-methoxyestradiol, an endogenous mammalian metabolite of estradiol that inhibits tubulin polymerization by binding to the colchicine binding site. J Med Chem. 1995;38:2041–9. doi:10.1021/jm00012a003.
Herr D, Bettendorf H, Denschlag D, Keck C, Pietrowski D. Cytochrome P2A13 and P1A1 gene polymorphisms are associated with the occurrence of uterine leiomyoma. Arch Gynecol Obstet. 2006;274:367–71. doi:10.1007/s00404-006-0201-8.
Boyapati SM, Shu XO, Gao YT, Cai Q, Jin F, Zheng W. Polymorphisms in CYP1A1 and breast carcinoma risk in a population-based case-control study of Chinese women. Cancer 2005;103:2228–35. doi:10.1002/cncr.21056.
Esinler I, Aktas D, Otegen U, Alikasifoglu M, Yarali H, Tuncbilek E. CYP1A1 gene polymorphism and polycystic ovary syndrome. Reprod Biomed Online. 2008;16:356–60.
Sutter TR, Tang YM, Hayes CL, Wo YY, Jabs EW, Li X, et al. 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.
Han X, Liehr JG. DNA single-strand breaks in kidneys of Syrian hamsters treated with steroidal estrogens: hormone-induced free radical damage preceding renal malignancy. Carcinogenesis 1994;15:997–1000. doi:10.1093/carcin/15.5.997.
Gaudet MM, Chanock S, Lissowska J, Berndt SI, Yang XR, Peplonska B, et al. Genetic variation of cytochrome P450 1B1 (CYP1B1) and risk of breast cancer among Polish women. Pharmacogenet Genomics. 2006;16:547–53. doi:10.1097/01.fpc.0000215067.29342.6f.
Paracchini V, Raimondi S, Gram IT, Kang D, Kocabas NA, Kristensen VN, 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;165:115–25. doi:10.1093/aje/kwj365.
Cho YJ, Hur SE, Lee JY, Song IO, Moon HS, Koong MK, et al. Single nucleotide polymorphisms and haplotypes of the genes encoding the CYP1B1 in Korean women: no association with advanced endometriosis. J Assist Reprod Genet. 2007;24:271–7. doi:10.1007/s10815-007-9122-0.
Sillanpää P, Heikinheimo L, Kataja V, Eskelinen M, Kosma VM, Uusitupa M, et al. CYP1A1 and CYP1B1 genetic polymorphisms, smoking and breast cancer risk in a Finnish Caucasian population. Breast Cancer Res Treat. 2007;104:287–97. doi:10.1007/s10549-006-9414-6.
Acknowledgments
This work has been supported by Neijiang First People’s Hospital.
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Capsule This is the first report that demonstrates the polymorphism at Ile462Val of CYP1A1 to be associated with uterine leiomyoma in Chinese women.
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Ye, Y., Cheng, X., Luo, HB. et al. CYP1A1 and CYP1B1 genetic polymorphisms and uterine leiomyoma risk in Chinese women. J Assist Reprod Genet 25, 389–394 (2008). https://doi.org/10.1007/s10815-008-9246-x
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DOI: https://doi.org/10.1007/s10815-008-9246-x