Volume 12, Issue 6 (8-2014)                   IJRM 2014, 12(6): 395-0 | Back to browse issues page

XML Persian Abstract Print


Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Mahdavipour M, Idali F, Zarei S, Talebi S, Fatemi R, Jeddi-Tehrani M, et al . Investigation on estrogen receptor alpha gene polymorphisms in Iranian women with recurrent pregnancy loss. IJRM. 2014; 12 (6) :395-0
URL: http://journals.ssu.ac.ir/ijrmnew/article-1-550-en.html
1- Cell and Molecular Research Centre, Qazvin University of Medical Sciences, Qazvin, Iran , farzadraj@yahoo.co.uk
2- Reproductive Immunology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran
3- Department of Immunology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
4- Monoclonal Antibody Research Center, Avicenna Research Institute, ACECR, Tehran, Iran
5- Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran
6- Cell and Molecular Research Centre, Qazvin University of Medical Sciences, Qazvin, Iran
Abstract:   (789 Views)
Background: Recurrent pregnancy loss (RPL) is a multifactorial disorder. Environmental factors and genetics can affect pregnancy outcomes.
Objective: Conflicting data suggest an association between estrogen receptor alpha (ESR1) gene polymorphisms and RPL. In this study, such association was investigated in Iranian women with RPL.
Materials and Methods: In this case control study, blood samples were collected from 244 women with a history of three or more consecutive pregnancy losses and 104 healthy women with at least two live births. Using polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP), we studied -397C/T and -351A/G polymorphisms on ESR1 gene in case and control subjects.
Results: The genotypic frequencies of -397C/T and -351A/G polymorphisms on ESR1were not significantly different between RPL and control groups (p=0.20 and p=0.09, respectively). A significantly negative correlation was observed between -397C/T and -351A/G (r=-0.852, p<0.001) in RPL women and complete linkage disequilibrium between the investigated polymorphisms was found (D’: 0.959; r-square= 0.758, p<0.001).
Conclusion: This investigation suggests that the analyzed polymorphisms on ESR1gene are not associated with an increased risk of RPL in the studied population.
Full-Text [PDF 153 kb]   (162 Downloads) |   |   Full-Text (HTML)  (73 Views)  
Type of Study: Original Article |

References
1. Stirrat GM. Recurrent miscarriage. II: Clinical associations, causes, and management. Lancet 1990; 336: 728-733. [DOI:10.1016/0140-6736(90)92215-4]
2. Baek KH, Lee EJ, Kim YS. Recurrent pregnancy loss: the key potential mechanisms. Trends Mol Med 2007; 13: 310-317. [DOI:10.1016/j.molmed.2007.05.005]
3. Li TC, Makris M, Tomsu M, Tuckerman E, Laird S. Recurrent miscarriage: aetiology, management and prognosis. Hum Reprod Update 2002; 8: 463-481. [DOI:10.1093/humupd/8.5.463]
4. Aksoy S, Celikkanat H, Senoz S, Gokmen O. The prognostic value of serum estradiol, progesterone, testosterone and free testosterone levels in detecting early abortions. Eur J Obstet Gynecol Reprod Biol 1996; 67: 5-8. [DOI:10.1016/0301-2115(96)02421-9]
5. Hanna CW, Bretherick KL, Liu CC, Stephenson MD, Robinson WP. Genetic variation within the hypothalamus-pituitary-ovarian axis in women with recurrent miscarriage. Hum Reprod 2010; 25: 2664-2671. [DOI:10.1093/humrep/deq211]
6. Pepe GJ, Albrecht ED. Actions of placental and fetal adrenal steroid hormones in primate pregnancy. Endocr Rev 1995; 16: 608-648.
7. Schindler AE. Endocrinology of pregnancy: consequences for the diagnosis and treatment of pregnancy disorders. J Steroid Biochem Mol Biol 2005; 97: 386-388. [DOI:10.1016/j.jsbmb.2005.08.006]
8. Zulli K, Bianco B, Mafra FA, Teles JS, Christofolini DM, Barbosa CP. Polymorphism of the estrogen receptor beta gene is related to infertility and infertility-associated endometriosis. Arq Bras Endocrinol Metab 2010; 54: 567-571. [DOI:10.1590/S0004-27302010000600010]
9. Herynk MH, Fuqua SA. Estrogen receptor mutations in human disease. Endocr Rev 2004; 25: 869-898. [DOI:10.1210/er.2003-0010]
10. 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. [DOI:10.1007/s10815-009-9354-2]
11. Enmark E, Pelto-Huikko M, Grandien K, Lagercrantz S, Lagercrantz J, Fried G, et al. Human estrogen receptor beta-gene structure, chromosomal localization, and expression pattern. J Clin Endocrinol Metab 1997; 82: 4258-4265.
12. Wu TC, Wang L, Wan YJ. Detection of estrogen receptor messenger ribonucleic acid in human oocytes and cumulus-oocyte complexes using reverse transcriptase-polymerase chain reaction. Fertil Steril 1993; 59: 54-59.
13. Hurst BS, Zilberstein M, Chou JY, Litman B, Stephens J, Leslie KK. Estrogen receptors are present in human granulosa cells. J Clin Endocrinol Metab 1995; 80: 229-232.
14. Hillier SG, Anderson RA, Williams AR, Tetsuka M. Expression of oestrogen receptor alpha and beta in cultured human ovarian surface epithelial cells. Mol Hum Reprod 1998; 4: 811-815. [DOI:10.1093/molehr/4.8.811]
15. Altmae S, Haller K, Peters M, Hovatta O, Stavreus-Evers A, Karro H, et al. Allelic estrogen receptor 1 (ESR1) gene variants predict the outcome of ovarian stimulation in in vitro fertilization. Mol Hum Reprod 2007; 13: 521-526. [DOI:10.1093/molehr/gam035]
16. de Castro F, Moron FJ, Montoro L, Galan JJ, Hernandez DP, Padilla ES, et al. Human controlled ovarian hyperstimulation outcome is a polygenic trait. Pharmacogenetics 2004; 14: 285-293. [DOI:10.1097/00008571-200405000-00003]
17. Pineda B, Hermenegildo C, Tarin JJ, Laporta P, Cano A, Garcia-Perez MA. Alleles and haplotypes of the estrogen receptor alpha gene are associated with an increased risk of spontaneous abortion. Fertil Steril 2010; 93: 1809-1815. [DOI:10.1016/j.fertnstert.2008.12.086]
18. Su MT, Lin SH, Chen YC. Association of sex hormone receptor gene polymorphisms with recurrent pregnancy loss: a systematic review and meta-analysis. Fertil Steril 2011; 96: 1435-1444. [DOI:10.1016/j.fertnstert.2011.09.030]
19. Rousseau F, Rehel R, Rouillard P, DeGranpre P, Khandjian EW. High throughput and economical mutation detection and RFLP analysis using a minimethod for DNA preparation from whole blood and acrylamide gel electrophoresis. Hum Mutat 1994; 4: 51-54. [DOI:10.1002/humu.1380040107]
20. Alessio AM, Siqueira LH, de Carvalho EC, Barini R, Mansur Ade P, Hoehr NF, et al. Estrogen receptor alpha and beta gene polymorphisms are not risk factors for recurrent miscarriage in a Brazilian population. Clin Appl Thromb Hemost 2008; 14: 180-185. [DOI:10.1177/1076029607304093]
21. M'Rabet N, Moffat R, Helbling S, Kaech A, Zhang H, de Geyter C. The CC-allele of the PvuII polymorphic variant in intron 1 of the alpha-estrogen receptor gene is significantly more prevalent among infertile women at risk of premature ovarian aging. Fertil Steril 2012; 98: 965-967. [DOI:10.1016/j.fertnstert.2012.05.048]
22. Li Y, Liu F, Tan SQ, Wang Y, Li SW. Estrogen receptor-alpha gene PvuII (T/C) and XbaI (A/G) polymorphisms and endometriosis risk: a meta-analysis. Gene 2012; 508: 41-48. [DOI:10.1016/j.gene.2012.07.049]
23. Manuck SB, Craig AE, Flory JD, Halder I, Ferrell RE. Reported early family environment covaries with menarcheal age as a function of polymorphic variation in estrogen receptor-alpha. Dev Psychopathol 2011; 23: 69-83. [DOI:10.1017/S0954579410000659]
24. van Meurs JB, Schuit SC, Weel AE, van der Klift M, Bergink AP, Arp PP, et al. Association of 5' estrogen receptor alpha gene polymorphisms with bone mineral density, vertebral bone area and fracture risk. Hum Mol Genet 2003; 12: 1745-1754. [DOI:10.1093/hmg/ddg176]
25. Schuit SC, Oei HH, Witteman JC, Geurts van Kessel CH, van Meurs JB, Nijhuis RL, et al. Estrogen receptor alpha gene polymorphisms and risk of myocardial infarction. JAMA 2004; 291: 2969-2977. [DOI:10.1001/jama.291.24.2969]
26. Weiderpass E, Persson I, Melhus H, Wedren S, Kindmark A, Baron JA. Estrogen receptor alpha gene polymorphisms and endometrial cancer risk. Carcinogenesis 2000; 21: 623-627. [DOI:10.1093/carcin/21.4.623]
27. Schuit SC, de Jong FH, Stolk L, Koek WN, van Meurs JB, Schoofs MW, et al. Estrogen receptor alpha gene polymorphisms are associated with estradiol levels in postmenopausal women. Eur J Endocrino 2005; 153: 327-334. [DOI:10.1530/eje.1.01973]
28. Jakimiuk A, Nowicka M, Bogusiewicz M, Adamiak A, Skorupski P, Miotla P, et al. Prevalence of estrogen receptor alpha PvuII and XbaI polymorphism in population of Polish postmenopausal women. Folia Histochem Cytobiol 2007; 45: 331-338.
29. Li TC, Spuijbroek MD, Tuckerman E, Anstie B, Loxley M, Laird S. Endocrinological and endometrial factors in recurrent miscarriage. BJOG 2000; 107: 1471-1479. [DOI:10.1111/j.1471-0528.2000.tb11670.x]
30. Chandler CJ. Hypersecretion of luteinising hormone: a significant cause of infertility and miscarriage. Br J Obstet Gynaecol 1994; 101: 737-738. [DOI:10.1111/j.1471-0528.1994.tb13205.x]
31. Clifford K, Rai R, Watson H, Regan L. An informative protocol for the investigation of recurrent miscarriage: preliminary experience of 500 consecutive cases. Hum Reprod 1994; 9: 1328-1332. [DOI:10.1093/oxfordjournals.humrep.a138703]
32. Watson H, Kiddy DS, Hamilton-Fairley D, Scanlon MJ, Barnard C, Collins WP, et al. Hypersecretion of luteinizing hormone and ovarian steroids in women with recurrent early miscarriage. Hum Reprod 1993; 8: 829-833. [DOI:10.1093/oxfordjournals.humrep.a138149]

Send email to the article author


© 2020 All Rights Reserved | International Journal of Reproductive BioMedicine

Designed & Developed by : Yektaweb