Clinical and Experimental Reproductive Medicine

The Korean Society for Reproductive Medicine (대한생식의학회)
권호 표지

No association of Polymorphism in the Estrogen-synthesizing Enzyme Genes CYP19 with Advanced Endometriosis in Korean Women

한국인 여성에서 중증 자궁내막증의 발생 위험도와 CYP19 유전자 다형성과의 관련성에 관한 연구

  • Hur, Sung Eun (Department of Obstetrics and Gynecology, College of Medicine, Ewha Womans University) ;
  • Lee, Ji Young (Department of Obstetrics and Gynecology, College of Medicine, KonKuk University) ;
  • Moon, Hye-Sung (Department of Obstetrics and Gynecology, College of Medicine, Ewha Womans University) ;
  • Chung, Hye Won (Department of Obstetrics and Gynecology, College of Medicine, Ewha Womans University)
  • 허성은 (이화여자대학교 의과대학 산부인과학교실) ;
  • 이지영 (건국대학교 의과대학 산부인과학교실) ;
  • 문혜성 (이화여자대학교 의과대학 산부인과학교실) ;
  • 정혜원 (이화여자대학교 의과대학 산부인과학교실)
  • Published : 2005.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

Objective: To investigate whether polymorphism of CYP19 gene is associated with the risk of advanced endometriosis in Korean women. Methods: Blood samples were collected from 202 endometriosis patients and 221 controls. The patients with endometriosis of stages III and IV diagnosed by both pathologic and laparoscopic findings to according modified AFS classification. The women undergoing laparoscopic surgery or laparotomy for non-malignant lesions were included in the control group. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) of PCR products were done to determine all individuals' genotype. Results: The heterozygous allele in CYP19 gene was the most common genotypes in both endometriosis and healthy control groups (52.0% vs. 46.1%). CYP19 gene polymorphisms did not show the significant differences between the control group and endometriosis group. Conclusion: The results suggested that the CYP19 genetic polymorphism was not associated with a risk of advanced endometriosis in Korean women.

Keywords

Acknowledgement

Supported by : 한국학술진흥재단

References

  1. Kennedy SH. Is there a genetic basis to endometriosis? Semin Reprod Endocrinol 1997; 15: 309 -17 https://doi.org/10.1055/s-2008-1068761
  2. Simpson JL, Elias S, Malinak LR, Buttram VC Jr.Heritable aspects of endometriosis. I. Genetic studies. Am J Obstet Gynecol 1980; 137: 327-31
  3. 심성신, 허성은, 이경순, 문혜성, 안정자, 유한기 등. 해독화 유전자 (GSTM1, GSTT1 and CYPIA1) 다형성과 한국인 여성의 자궁내막증의 연관성에 관한 연구. 대한산부인과학회지 2003;46:403-9
  4. 이사라, 이소현, 이운정, 허성은, 이지영, 문혜성 등. 한국여성에게 자궁내막증의 발생 위험도와 Catechol-O-Methyltrasferase 유전자 다형성과의 관련성에 관한 연구. 대한불임학회지 2004;31:311-5
  5. 허성은, 김미경, 이사라, 이지영, 문혜성, 정혜원. 한국인 여성에게 중증 자궁내막증의 발생위험도와 CYP17 유전자 다형성과의 관련성에 관한 연구. 대한산부인과학회지 2005;48:695-700
  6. 김무희, 김윤수, 이사라, 심성신, 허성은, 이운정 등. 한국인 여성에서 자궁내막증의 감수성과 Glutathione S-transferase 유전자 다형성과의 연관성. 대한산부인과학회지 2003;46:2403-9
  7. Georgiou I, Syrrou M, Bouba I, Dalkalitsis N, Paschopoulos M, Navrozoglou 1, et al. Association of estrogen receptor gene polymorphisms with endometriosis. Ferril Steril 1999; 72: 164-6 https://doi.org/10.1016/S0015-0282(99)00198-3
  8. Kado N, Kitawaki J, Obayashi H, Ishihara H, Koshiba H, Kusuki I, et al. Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women. Hum Reprod 2002; 17: 897-902 https://doi.org/10.1093/humrep/17.4.897
  9. Tsuchiya M, Nakao H, Katoh T, Sasaki H, Hiroshima M, Tanaka T, et al. Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19. Hum Reprod 2005; 20: 974-8 https://doi.org/10.1093/humrep/deh726
  10. Baranova H, Canis M, Ivaschenko T, Albuisson E, Bothorishvilli R, Baranov V, et aL Possible involvement of arylamine N-acetyltransferase2, glutathione S-transferases Ml and Tl genes in the development of endometriosis. Mol Hum Reprod 1999; 5: 636-41 https://doi.org/10.1093/molehr/5.7.636
  11. Kado N, Kitawaki J, Obayashi H, Ishihara H, Koshiba H, Kusuki I, et al. Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women. Hum Reprod 2002 Apr; 17: 897-902 https://doi.org/10.1093/humrep/17.4.897
  12. Sowers M, Willing M, Bums T, Deschenes S, Hollis B, Crutchfield M, et al. Genetic markers, bone mineral density, and serum osteocalcin levels. J Bone Miner Res 1999; 14: 1411-9 https://doi.org/10.1359/jbmr.1999.14.8.1411
  13. Masi L, Becherini L, Gennari L, Amedei A, Colli E, Falchetti A, et aL Polymorphism of the aromatase gene in postmenopausal Italian women: distribution and correlation with bone mass and fracture risk. J elin Endocrinol Metab 2001; 86: 2263-9 https://doi.org/10.1210/jc.86.5.2263
  14. Haiman CA, Hankinson SE, Spiegelman D, De Vivo I, Colditz GA, Willett WC, et aL A tetranucleotide repeat polymorphism in CYP19 and breast cancer risk. Int J Cancer 2000; 87: 204-10 https://doi.org/10.1002/1097-0215(20000715)87:2<204::AID-IJC8>3.0.CO;2-3
  15. Baxter SW, Choong DY, Eccles DM, Campbell IG. Polymorphic variation in CYP19 and the risk of breast cancer. Carcinogenesis 2001; 22: 347-9 https://doi.org/10.1093/carcin/22.2.347
  16. Miyoshi Y, Iwao K, Ikeda N, Egawa C, Noguchi S. Breast cancer risk associated with polymorphism in CYP19 in Japanese women. lnt J Cancer 2000; 89: 325-8
  17. 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 https://doi.org/10.1210/jc.2003-030164
  18. American Fertility Society. Revised American Fertility Society classification of endometriosis. Fertil Steril 1985; 43: 351
  19. Tofteng CL, Kindmark A, Brandstrom H, Abrahamsen B, Petersen S, Stiger F, et al. Danish Osteoporosis Prevention Study. Polymorphisms in the CYP19 and AR genes-relation to bone mass and longitudinal bone changes in postmenopausal women with or without hormone replacement therapy: The Danish Osteoporosis Prevention Study. Calcif Tissue Int. 2004; 74: 25-34 https://doi.org/10.1007/s00223-002-2158-3
  20. Bulun SE, Fang Z, lmir G, Gurates B, Tamura M, Yilmaz B, et al. Aromatase and endometriosis. Semin Reprod Med 2004; 22: 45-50 https://doi.org/10.1055/s-2004-823026
  21. Lee KM, Abel J, Ko Y, Harth V, Park WY, Seo JS, et al. Genetic polymorphisms of cytochrome P450 19 and lB 1, alcohol use, and breast cancer risk in Korean women. Br J Cancer 2003; 88: 675-8 https://doi.org/10.1038/sj.bjc.6600761
  22. Kristensen VN, Andersen TI, Lindblom A, Erikstein B, Magnus P, Borresen-Dale AL. A rare CYP19 (aromatase) variant may increase the risk of breast cancer. Pharmacogenetics 1998; 8: 43-8 https://doi.org/10.1097/00008571-199802000-00006
  23. Arvamtis DA, Koumantakis GE, Goumenou AG, Matalliotakis 1M, Kou mantakis EE, Spandidos DA. CYP1Al, CYP19, and GSTMI polymorphisms increase the risk of endometriosis. Fertil Steril 2003; 79 Suppll: 702-9 https://doi.org/10.1016/S0015-0282(02)04817-3
  24. Kristensen VN, Harada N, Yoshimura N, Haraldsen E, Lonning PE, Erikstein B, et al. Genetic variants of CYP 19 (aromatase) and breast cancer risk. Oncogene 2000; 19: 1329-33 https://doi.org/10.1038/sj.onc.1203425
  25. Haiman CA, Hankinson SE, Spiegelman D, Brown M, Hunter DJ. No association between a single nucleotide polymorphism in CYP19 and breast cancer risk. Cancer Epidemiol Biomarkers Prev 2002; 11: 215-6
  26. Sourdaine P, Parker MG, Telford J, Miller WR. Analysis of the aromatase cytochrome P450 gene in human breast cancers. J Mol Endocrinol 1994; 13: 331-7 https://doi.org/10.1677/jme.0.0130331