939
Views
45
CrossRef citations to date
0
Altmetric
Endometriosis

Polymorphisms in ESR1, ESR2 and HSD17B1 genes are associated with fertility status in endometriosis

, , , , , , , & show all
Pages 425-433 | Received 26 Mar 2010, Accepted 19 May 2010, Published online: 29 Jun 2010

References

  • Calhaz-Jorge C, Mol BW, Nunes J, Costa AP: Clinical predictive factors for endometriosis in a Portuguese infertile population. Hum Reprod 2004;19:2126–2131.
  • Mahmood TA, Templeton A: Prevalence and genesis of endometriosis. Hum Reprod 1991;6:544–549.
  • Kitawaki J, Kado N, Ishihara H, Koshiba H, Kitaoka Y, Honjo H: Endometriosis: the pathophysiology as an estrogen-dependent disease. J Steroid Biochem Mol Biol 2002;83:149–155.
  • Bischoff F, Simpson JL: Genetic basis of endometriosis. Ann N Y Acad Sci 2004;1034:284–299.
  • Falconer H, D'Hooghe T, Fried G: Endometriosis and genetic polymorphisms. Obstet Gynecol Surv 2007;62:616–628.
  • Kolibianakis EM, Papanikolaou EG, Fatemi HM, Devroey P: Estrogen and folliculogenesis: is one necessary for the other? Curr Opin Obstet Gynecol 2005;17:249–253.
  • Matthews J, Gustafsson JA: Estrogen signaling: a subtle balance between ER alpha and ER beta. Mol Interv 2003;3:281–292.
  • Conneely OM, Mulac-Jericevic B, Lydon JP: Progesterone-dependent regulation of female reproductive activity by two distinct progesterone receptor isoforms. Steroids 2003;68:771–778.
  • Moutsatsou P, Sekeris CE: Steroid receptors in the uterus: implications in endometriosis. Ann N Y Acad Sci 2003;997:209–222.
  • Misao R, Iwagaki S, Fujimoto J, Sun W, Tamaya T: Dominant expression of progesterone receptor form B mRNA in ovarian endometriosis. Horm Res 1999;52:30–34.
  • Smuc T, Pucelj MR, Sinkovec J, Husen B, Thole H, Lanisnik Rizner T: Expression analysis of the genes involved in estradiol and progesterone action in human ovarian endometriosis. Gynecol Endocrinol 2007;23:105–111.
  • Noble LS, Simpson ER, Johns A, Bulun SE: Aromatase expression in endometriosis. J Clin Endocrinol Metab 1996;81:174–179.
  • De Vivo I, Huggins GS, Hankinson SE, Lescault PJ, Boezen M, Colditz GA, Hunter DJ: A functional polymorphism in the promoter of the progesterone receptor gene associated with endometrial cancer risk. Proc Natl Acad Sci USA 2002;99:12263–12268.
  • Gennari L, Merlotti D, De Paola V, Calabro A, Becherini L, Martini G, Nuti R: Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a HuGE review. Am J Epidemiol 2005;161:307–320.
  • Kristensen VN, Harada N, Yoshimura N, Haraldsen E, Lonning PE, Erikstein B, Karesen R, Kristensen T, Borresen-Dale AL: Genetic variants of CYP19 (aromatase) and breast cancer risk. Oncogene 2000;19:1329–1333.
  • Feigelson HS, Cox DG, Cann HM, Wacholder S, Kaaks R, Henderson BE, Albanes D, Altshuler D, Berglund G, Berrino F, et al Haplotype analysis of the HSD17B1 gene and risk of breast cancer: a comprehensive approach to multicenter analyses of prospective cohort studies. Cancer Res 2006;66:2468–2475.
  • Altmäe S, Haller K, Peters M, Saare M, Hovatta O, Stavreus-Evers A, Velthut A, Karro H, Metspalu A, Salumets A: Aromatase gene (CYP19A1) variants, female infertility and ovarian stimulation outcome: a preliminary report. Reprod Bio Med Online 2009;18:651–657.
  • Ayvaz OU, Ekmekci A, Baltaci V, Onen HI, Unsal E: Evaluation of in vitro fertilization parameters and estrogen receptor alpha gene polymorphisms for women with unexplained infertility. J Assist Reprod Genet 2009;26:503–510.
  • Altmäe S, Haller K, Peters M, Hovatta O, Stavreus-Evers A, Karro H, Metspalu A, Salumets A: Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization. Mol Hum Reprod 2007;13:521–526.
  • ASRM: Revised American Society for Reproductive Medicine classification of endometriosis: 1996. Fertil Steril 1997;67:817–821.
  • Aljanabi SM, Martinez I: Universal and rapid salt-extraction of high quality genomic DNA for PCR-based techniques. Nucleic Acids Res 1997;25:4692–4693.
  • Cramer DW, Missmer SA: The epidemiology of endometriosis. Ann N Y Acad Sci 2002;955:11–22; discussion 34–16, 396–406.
  • Kim SH, Choi YM, Jun JK, Kim SH, Kim JG, Moon SY: Estrogen receptor dinucleotide repeat polymorphism is associated with minimal or mild endometriosis. Fertil Steril 2005;84:774–777.
  • Xie J, Wang S, He B, Pan Y, Li Y, Zeng Q, Jiang H, Chen J: Association of estrogen receptor alpha and interleukin-10 gene polymorphisms with endometriosis in a Chinese population. Fertil Steril 2008;92:54–60.
  • Georgiou I, Syrrou M, Bouba I, Dalkalitsis N, Paschopoulos M, Navrozoglou I, Lolis D: Association of estrogen receptor gene polymorphisms with endometriosis. Fertil Steril 1999;72:164–166.
  • Hsieh YY, Chang CC, Tsai FJ, Lin CC, Tsai CH: Estrogen receptor alpha dinucleotide repeat and cytochrome P450c17alpha gene polymorphisms are associated with susceptibility to endometriosis. Fertil Steril 2005;83:567–572.
  • Corbo RM, Ulizzi L, Piombo L, Martinez-Labarga C, De Stefano GF, Scacchi R: Estrogen receptor alpha polymorphisms and fertility in populations with different reproductive patterns. Mol Hum Reprod 2007;13:537–540.
  • Sundarrajan C, Liao W, Roy AC, Ng SC: Association of oestrogen receptor gene polymorphisms with outcome of ovarian stimulation in patients undergoing IVF. Mol Hum Reprod 1999;5:797–802.
  • Ugai K, Nishimura K, Fukino K, Nakamura T, Ueno K: Functional analysis of transcriptional activity of cytosine and adenine (CA) repeats polymorphism in the estrogen receptor beta gene. J Toxicol Sci 2008;33:237–240.
  • Hui J, Hung LH, Heiner M, Schreiner S, Neumuller N, Reither G, Haas SA, Bindereif A: Intronic CA-repeat and CA-rich elements: a new class of regulators of mammalian alternative splicing. EMBO J 2005;24:1988–1998.
  • Fujimoto J, Hirose R, Sakaguchi H, Tamaya T: Expression of oestrogen receptor-alpha and -beta in ovarian endometriomata. Mol Hum Reprod 1999;5:742–747.
  • Trukhacheva E, Lin Z, Reierstad S, Cheng YH, Milad M, Bulun SE: Estrogen receptor (ER) beta regulates ERalpha expression in stromal cells derived from ovarian endometriosis. J Clin Endocrinol Metab 2009;94:615–622.
  • Puranen TJ, Poutanen MH, Peltoketo HE, Vihko PT, Vihko RK: Site-directed mutagenesis of the putative active site of human 17 beta-hydroxysteroid dehydrogenase type 1. Biochem J 1994;304 ( Pt 1):289–293.
  • Setiawan VW, Hankinson SE, Colditz GA, Hunter DJ, De Vivo I: HSD17B1 gene polymorphisms and risk of endometrial and breast cancer. Cancer Epidemiol Biomarkers Prev 2004;13:213–219.
  • Tsuchiya M, Nakao H, Katoh T, Sasaki H, Hiroshima M, Tanaka T, Matsunaga T, Hanaoka T, Tsugane S, Ikenoue T: Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19. Hum Reprod 2005;20:974–978.
  • Treloar SA, Zhao ZZ, Armitage T, Duffy DL, Wicks J, O'Connor DT, Martin NG, Montgomery GW: Association between polymorphisms in the progesterone receptor gene and endometriosis. Mol Hum Reprod 2005;11:641–647.
  • Romano A, Delvoux B, Fischer DC, Groothuis P: The PROGINS polymorphism of the human progesterone receptor diminishes the response to progesterone. J Mol Endocrinol 2007;38:331–350.
  • Lattuada D, Somigliana E, Vigano P, Candiani M, Pardi G, Di Blasio AM: Genetics of endometriosis: a role for the progesterone receptor gene polymorphism PROGINS? Clin Endocrinol (Oxf) 2004;61:190–194.
  • Wieser F, Schneeberger C, Tong D, Tempfer C, Huber JC, Wenzl R: PROGINS receptor gene polymorphism is associated with endometriosis. Fertil Steril 2002;77:309–312.
  • Gentilini D, Vigano P, Carmignani L, Spinelli M, Busacca M, Di Blasio AM: Progesterone receptor +331G/A polymorphism in endometriosis and deep-infiltrating endometriosis. Fertil Steril 2008;90:1243–1245.
  • Gennari L, Masi L, Merlotti D, Picariello L, Falchetti A, Tanini A, Mavilia C, Del Monte F, Gonnelli S, Lucani B, Gennari C, Brandi ML: A polymorphic CYP19 TTTA repeat influences aromatase activity and estrogen levels in elderly men: effects on bone metabolism. J Clin Endocrinol Metab 2004;89:2803–2810.
  • Vietri MT, Cioffi M, Sessa M, Simeone S, Bontempo P, Trabucco E, Ardovino M, Colacurci N, Molinari AM, Cobellis L: CYP17 and CYP19 gene polymorphisms in women affected with endometriosis. Fertil Steril 2009;92:1532–1535.
  • Kado N, Kitawaki J, Obayashi H, Ishihara H, Koshiba H, Kusuki I, Tsukamoto K, Hasegawa G, Nakamura N, Yoshikawa T, Honjo H: Association of the CYP17 gene and CYP19 gene polymorphisms with risk of endometriosis in Japanese women. Hum Reprod 2002;17:897–902.
  • 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 (Suppl 1):702–709.
  • 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;106:1025–1031.
  • Hur SE, Lee S, Lee JY, Moon HS, Kim HL, Chung HW: Polymorphisms and haplotypes of the gene encoding the estrogen-metabolizing CYP19 gene in Korean women: no association with advanced-stage endometriosis. J Hum Genet 2007;52:703–711.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.