Association of Genetic Polymorphisms in HSD17B1, HSD17B2 and SHBG Genes with Hepatocellular Carcinoma Risk

详细信息    查看全文

• 作者：Lu Shun Zhang (1)
  Fang Yuan (2)
  Xuan Guan (3)
  Juan Li (1)
  Xin Lian Liu (1)
  Jing Sun (1)
  Bo Liu (4)
  Wei Ma (4)
  Feng Mei Deng (1)
  
• 关键词：SHBG ; HSD17B1 ; HSD17B2 ; HCC
• 刊名：Pathology & Oncology Research
• 出版年：2014
• 出版时间：July 2014
• 年：2014
• 卷：20
• 期：3
• 页码：661-666
• 全文大小：
• 参考文献：1. Parkin DM, Bray F, Ferlay J, Pisani P (2001) Estimating the world cancer burden: Globocan 2000. Int J Cancer 94(2):153-56 CrossRef
  2. Bosch FX, Ribes J, Cleries R, Diaz M (2005) Epidemiology of hepatocellular carcinoma. Clin Liver Dis 9(2):191-11. doi:10.1016/j.cld.2004.12.009 CrossRef
  3. Tan A, Yeh SH, Liu CJ, Cheung C, Chen PJ (2008) Viral hepatocarcinogenesis: from infection to cancer. Liver Int Off J Int Assoc Study Liver 28(2):175-88. doi:10.1111/j.1478-3231.2007.01652.x CrossRef
  4. Gomaa AI, Khan SA, Toledano MB, Waked I, Taylor-Robinson SD (2008) Hepatocellular carcinoma: epidemiology, risk factors and pathogenesis. World J Gastroenterol 14(27):4300-308 CrossRef
  5. De Maria N, Manno M, Villa E (2002) Sex hormones and liver cancer. Mol Cell Endocrinol 193(1-):59-3 CrossRef
  6. Giannitrapani L, Soresi M, La Spada E, Cervello M, D’Alessandro N, Montalto G (2006) Sex hormones and risk of liver tumor. Ann N Y Acad Sci 1089:228-36. doi:10.1196/annals.1386.044 CrossRef
  7. Pasqualini JR (2004) The selective estrogen enzyme modulators in breast cancer: a review. Biochim Biophys Acta 1654(2):123-43. doi:10.1016/j.bbcan.2004.03.001
  8. Vihko P, Isomaa V, Ghosh D (2001) Structure and function of 17beta-hydroxysteroid dehydrogenase type 1 and type 2. Mol Cell Endocrinol 171(1-):71-6 CrossRef
  9. Tsuchiya Y, Nakajima M, Yokoi T (2005) Cytochrome P450-mediated metabolism of estrogens and its regulation in human. Cancer Lett 227(2):115-24. doi:10.1016/j.canlet.2004.10.007 CrossRef
  10. Berube D, Seralini GE, Gagne R, Hammond GL (1990) Localization of the human sex hormone-binding globulin gene (SHBG) to the short arm of chromosome 17 (17p12–p13). Cytogenet Cell Genet 54(1-):65-7
  11. Mahato D, Goulding EH, Korach KS, Eddy EM (2001) Estrogen receptor-alpha is required by the supporting somatic cells for spermatogenesis. Mol Cell Endocrinol 178(1-):57-3 CrossRef
  12. Kato S, Masuhiro Y, Watanabe M, Kobayashi Y, Takeyama KI, Endoh H, Yanagisawa J (2000) Molecular mechanism of a cross-talk between oestrogen and growth factor signalling pathways. Genes Cells 5(8):593-01 CrossRef
  13. Kahn SM, Hryb DJ, Nakhla AM, Romas NA, Rosner W (2002) Sex hormone-binding globulin is synthesized in target cells. J Endocrinol 175(1):113-20 CrossRef
  14. Fortunati N, Becchis M, Catalano MG, Comba A, Ferrera P, Raineri M, Berta L, Frairia R (1999) Sex hormone-binding globulin, its membrane receptor, and breast cancer: a new approach to the modulation of estradiol action in neoplastic cells. J Steroid Biochem Mol Biol 69(1-):473-79 CrossRef
  15. Cui Y, Shu XO, Cai Q, Jin F, Cheng JR, Cai H, Gao YT, Zheng W (2005) Association of breast cancer risk with a common functional polymorphism (Asp327Asn) in the sex hormone-binding globulin gene. Cancer Epidemiol Biomarkers Prev 14(5):1096-101. doi:10.1158/1055-9965.EPI-04-0721 CrossRef
  16. Kataoka N, Cai Q, Xu WH, Xiang YB, Cai H, Zheng W, Shu XO (2007) Association of endometrial cancer risk with a functional polymorphism (Asp(327)Asn) in the sex hormone-binding globulin gene. Cancer 109(7):1296-302. doi:10.1002/cncr.22531 CrossRef
  17. Garcia-Closas M, Brinton LA, Lissowska J, Richesson D, Sherman ME, Szeszenia-Dabrowska N, Peplonska B, Welch R, Yeager M, Zatonski W, Chanock SJ (2007) Ovarian cancer risk and common variation in the sex hormone-binding globulin gene: a population-based case–control study. BMC Cancer 7:60. doi:10.1186/1471-2407-7-60 CrossRef
  18. Berndt SI, Chatterjee N, Huang WY, Chanock SJ, Welch R, Crawford ED, Hayes RB (2007) Variant in sex hormone-binding globulin gene and the risk of prostate cancer. Cancer Epidemiol Biomarkers Prev 16(1):165-68. doi:10.1158/1055-9965.EPI-06-0689 CrossRef
  19. Cong RJ, Huang ZY, Cong L, Ye Y, Wang Z, Zha L, Cao LP, Su XW, Yan J, Li YB (2012) Polymorphisms in genes HSD17B1 and HSD17B2 and uterine leiomyoma risk in Chinese women. Arch Gynecol Obstet 286(3):701-05. doi:10.1007/s00404-012-2328-0 CrossRef
  20. Napoli N, Varadharajan A, Rini GB, Del Fiacco R, Yarramaneni J, Mumm S, Villareal DT, Armamento-Villareal R (2009) Effects of polymorphisms of the sex hormone-binding globulin (SHBG) gene on free estradiol and bone mineral density. Bone 45(6):1169-174. doi:10.1016/j.bone.2009.08.001 CrossRef
  21. Johnson FL, Lerner KG, Siegel M, Feagler JR, Majerus PW, Hartmann JR, Thomas ED (1972) Association of androgenic-anabolic steroid therapy with development of hepatocellular carcinoma. Lancet 2(7790):1273-276 CrossRef
  22. Baum JK, Bookstein JJ, Holtz F, Klein EW (1973) Possible association between benign hepatomas and oral contraceptives. Lancet 2(7835):926-29 CrossRef
  23. Peltoketo H, Luu-The V, Simard J, Adamski J (1999) 17beta-hydroxysteroid dehydrogenase (HSD)/17-ketosteroid reductase (KSR) family; nomenclature and main characteristics of the 17HSD/KSR enzymes. J Mol Endocrinol 23(1):1-1
  24. Normand T, Narod S, Labrie F, Simard J (1993) Detection of polymorphisms in the estradiol 17 beta-hydroxysteroid dehydrogenase II gene at the EDH17B2 locus on 17q11-q21. Hum Mol Genet 2(4):479-83 CrossRef
  25. Mannermaa A, Peltoketo H, Winqvist R, Ponder BA, Kiviniemi H, Easton DF, Poutanen M, Isomaa V, Vihko R (1994) Human familial and sporadic breast cancer: analysis of the coding regions of the 17 beta-hydroxysteroid dehydrogenase 2 gene (EDH17B2) using a single-strand conformation polymorphism assay. Hum Genet 93(3):319-24 CrossRef
  26. Feigelson HS, Cox DG, Cann HM, Wacholder S, Kaaks R, Henderson BE, Albanes D, Altshuler D, Berglund G, Berrino F, Bingham S, Buring JE, Burtt NP, Calle EE, Chanock SJ, Clavel-Chapelon F, Colditz G, Diver WR, Freedman ML, Haiman CA, Hankinson SE, Hayes RB, Hirschhorn JN, Hunter D, Kolonel LN, Kraft P, LeMarchand L, Linseisen J, Modi W, Navarro C, Peeters PH, Pike MC, Riboli E, Setiawan VW, Stram DO, Thomas G, Thun MJ, Tjonneland A, Trichopoulos D (2006) Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies. Cancer Res 66(4):2468-475. doi:10.1158/0008-5472.can-05-3574 CrossRef
  27. Kraft P, Pharoah P, Chanock SJ, Albanes D, Kolonel LN, Hayes RB, Altshuler D, Andriole G, Berg C, Boeing H, Burtt NP, Bueno-de-Mesquita B, Calle EE, Cann H, Canzian F, Chen YC, Crawford DE, Dunning AM, Feigelson HS, Freedman ML, Gaziano JM, Giovannucci E, Gonzalez CA, Haiman CA, Hallmans G, Henderson BE, Hirschhorn JN, Hunter DJ, Kaaks R, Key T, Le Marchand L, Ma J, Overvad K, Palli D, Pike MC, Riboli E, Rodriguez C, Setiawan WV, Stampfer MJ, Stram DO, Thomas G, Thun MJ, Travis R, Trichopoulou A, Virtamo J, Wacholder S (2005) Genetic variation in the HSD17B1 gene and risk of prostate cancer. PLoS Genet 1(5):e68. doi:10.1371/journal.pgen.0010068 CrossRef
  28. Gaudet MM, Chanock S, Dunning A, Driver K, Brinton LA, Lissowska J, Peplonska B, Pharoah P, Garcia-Closas M (2008) HSD17B1 genetic variants and hormone receptor-defined breast cancer. Cancer Epidemiol Biomark Prev 17(10):2766-772. doi:10.1158/1055-9965.epi-07-2891 CrossRef
  29. Husen B, Psonka N, Jacob-Meisel M, Keil C, Rune GM (2000) Differential expression of 17beta-hydroxysteroid dehydrogenases types 2 and 4 in human endometrial epithelial cell lines. J Mol Endocrinol 24(1):135-44 CrossRef
  30. Moghrabi N, Head JR, Andersson S (1997) Cell type-specific expression of 17 beta-hydroxysteroid dehydrogenase type 2 in human placenta and fetal liver. J Clin Endocrinol Metab 82(11):3872-878
  31. Andersson S, Moghrabi N (1997) Physiology and molecular genetics of 17 beta-hydroxysteroid dehydrogenases. Steroids 62(1):143-47 CrossRef
  32. Elo JP, Harkonen P, Kyllonen AP, Lukkarinen O, Poutanen M, Vihko R, Vihko P (1997) Loss of heterozygosity at 16q24.1-q24.2 is significantly associated with metastatic and aggressive behavior of prostate cancer. Cancer Res 57(16):3356-359
  33. Su MT, Chen CH, Kuo PH, Hsu CC, Lee IW, Pan HA, Chen YT, Kuo PL (2010) Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect. Fertil Steril 93(1):141-49. doi:10.1016/j.fertnstert.2008.09.030 CrossRef
  34. Dunning AM, Dowsett M, Healey CS, Tee L, Luben RN, Folkerd E, Novik KL, Kelemen L, Ogata S, Pharoah PD, Easton DF, Day NE, Ponder BA (2004) Polymorphisms associated with circulating sex hormone levels in postmenopausal women. J Natl Cancer Inst 96(12):936-45 CrossRef
  35. Forsti A, Jin Q, Grzybowska E, Soderberg M, Zientek H, Sieminska M, Rogozinska-Szczepka J, Chmielik E, Utracka-Hutka B, Hemminki K (2002) Sex hormone-binding globulin polymorphisms in familial and sporadic breast cancer. Carcinogenesis 23(8):1315-320 CrossRef
  36. Cunningham JM, Hebbring SJ, McDonnell SK, Cicek MS, Christensen GB, Wang L, Jacobsen SJ, Cerhan JR, Blute ML, Schaid DJ, Thibodeau SN (2007) Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer. Cancer Epidemiol Biomarkers Prev 16(5):969-78. doi:10.1158/1055-9965.epi-06-0767 CrossRef
  37. Shimizu I, Ito S (2007) Protection of estrogens against the progression of chronic liver disease. Hepatol Res Off J Japan Soc Hepatol 37(4):239-47. doi:10.1111/j.1872-034X.2007.00032.x CrossRef
  
• 作者单位：Lu Shun Zhang (1)
  Fang Yuan (2)
  Xuan Guan (3)
  Juan Li (1)
  Xin Lian Liu (1)
  Jing Sun (1)
  Bo Liu (4)
  Wei Ma (4)
  Feng Mei Deng (1)
  
  1. Department of Pathology and Pathophysiology, Cheng Du Medical College, Chengdu, 610500, China
  2. Department of Immunology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, 610041, China
  3. Department of Experimental Technology, Chengdu Medical College, Chengdu, 610500, China
  4. Department of Lab Medicine, Cheng Du Medical College, Chengdu, 610500, China
  
• ISSN：1532-2807

文摘

Genetic polymorphisms of enzymes involved in estrogen synthesizing/transporting can influence the risk of hormone-dependent diseases. The incidence rate and relative risk for hepatocellular carcinoma (HCC) are higher in men than in women. This study was conducted to explore the relationship of single nucleotide polymorphisms (SNPs) in 17 β-Hydroxysteroid dehydrogenases (HSD17B1 and HSD17B2) and sex hormone-binding globulin (SHBG) genes with the risk of HCC within Chinese Han population. Polymorphisms of HSD17B1 rs676387, HSD17B2 rs8191246 and SHBG rs6259 were genotyped in 253 HCC patients and 438 healthy control subjects using the polymerase chain reaction–restriction fragment length polymorphism (PCR–RFLP). Significantly increased HCC risk was found to be associated with T allele of rs676387 and G allele of rs8191246. Increased HCC risks were found in different genetic model (TT genotype in a recessive model, T allele carriers in a dominant model, TT genotype and TG genotype in a codominant model for HSD17B1 rs676387, G allele carriers in a dominant model and AG genotype in a codominant model for HSD17B2 rs8191246, respectively). No association between SHBG rs6259 and HCC risk was observed. The present study provided evidence that HSD17B1 rs676387 and HSD17B2 rs8191246 were association with HCC development. Further studies in diverse ethnic population with larger sample size were recommended to confirm the findings.