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StuI polymorphism on the androgen receptor gene is associated with recurrent spontaneous abortion

  • Genetics
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Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

This is a case- control study to determine whether G1733A polymorphism of androgen receptor gene is associated with an increased risk for recurrent spontaneous abortion (RSA).

Method

A total of 85 women with at least two recurrent spontaneous abortion before 20th week of gestation composed the study group. Subjects were genotyped by the polymerase chain reaction restriction fragment length polymorphism method.

Results

The observed frequencies of GG, GA and AA genotypes of the G1733A polymorphism were 5.89 %, 82.35 % and 11.76 %, respectively, for the patient group and 71.76 %, 23.51 % and 4.71 %, respectively, for the control group. Allele frequencies of the G1733A polymorphism among patients and controls were 0.47 and 0.84, respectively, for the dominant allele (G) (wild type) and 0.53 and 0.16, respectively, for the A allele (mutant type).

Conclusions

These results indicated that the androgen receptor G1733A polymorphism is strongly associated with increased risk for RSA.

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References

  1. Apparao KB, Lovely LP, Gui Y, Lininger RA, Lessey BA. Elevated endometrial androgen receptor expression in women with polycystic ovarian syndrome. Biol Reprod. 2002;66:297–304.

    Article  PubMed  CAS  Google Scholar 

  2. Brosens IA, De Sutter P, Hamerlynck T, Imeraj L, Yao Z, Cloke B, et al. Endometriosis is associated with a decreased risk of preeclampsia. Hum Reprod. 2007;22:1725–9.

    Article  PubMed  Google Scholar 

  3. Brown CJ, Goss SJ, Lubahn DB, Joseph DR, Wilson EM, French FS, et al. Androgen receptor locus on the human X chromosome: regional localization to Xq11-12 and description of a DNA polymorphism. Am J Hum Genet. 1989;44:264–9.

    PubMed  CAS  Google Scholar 

  4. Buchholz T, Lohse P, Kosian E, Thaler CJ. Vasoconstrictively acting AT1R A1166C and NOS3 4/5 polymorphisms in recurrent spontaneous abortions (RSA). Am J Reprod Immunol. 2004;51(5):323–8.

    Article  PubMed  Google Scholar 

  5. Burger HG. Androgen production in women. Fertil Stril. 2002;77:S3–5.

    Article  Google Scholar 

  6. Carrington B, Sacks G, Regan L. Recurrent miscarriage: pathophysiology and outcome. Curr Opin Obstet Gynecol. 2005;17(6):591–7.

    Article  PubMed  Google Scholar 

  7. Chamberlain NL, Driver ED, Miesfeld RL. The length and location of CAG trinucleotide repeats in the androgen receptor N-terminal domain affect transactivation function. Nucleic Acids Res. 1994;22:3181–6.

    Article  PubMed  CAS  Google Scholar 

  8. Chang C, Saltzman A, Yeh S, Young W, Keller E, Lee HJ, et al. Androgen receptor: an overview. Crit Rev Eukaryot Gene Expr. 1995;5:97–125.

    Article  PubMed  CAS  Google Scholar 

  9. Ding D, Xu L, Menon M, Reddy GP, Barrack ER. Effect of GGC (glycine) repeat length polymorphism in the human androgen receptor on androgen action. Prostate. 2005;62:133–9.

    Article  PubMed  CAS  Google Scholar 

  10. Grad JM, Lyons LS, Robins DM, Burnstein KL. The androgen receptor (AR) amino-terminus imposes androgen-specific regulation of AR gene expression via an exonic enhancer. Endocrinology. 2001;142:1107–16.

    Article  PubMed  CAS  Google Scholar 

  11. Guay A, Munarriz R, Jacobson J, Talakoub L, Quirk F, Goldstein I, et al. Serum androgen levels healthy premenopausal women with and without sexual dysfunction: part A. Serum androgen levels in women aged 20–49 years with no complaints of sexual dysfunction. Int J Import. 2004;16:112–20.

    Article  CAS  Google Scholar 

  12. Karvela M, Papadopoulou S, Tsaliki E, Konstantakou E, Hatzaki A, Florentin-Arar L, et al. Endothelial nitric oxide synthase gene polymorphisms in recurrent spontaneous abortions. Arch Gynecol Obstet. 2008;278(4):349–52.

    Article  PubMed  CAS  Google Scholar 

  13. Karvela M, Stefanakis N, Papadopoulou S, Tsitilou SG, Tsilivakos V and Lamnissou K. Evidence for association of the G1733A polymorphism of the androgen receptor gene with recurrent spontaneous abortions. Fertil Stril. 2008;90.

  14. Li TC, Makris M, Tomsu M, Tuckerman E, Laird S. Recurrent miscarriage: aetiology, management and prognosis. Hum Reprod Update. 2002;8:463–81.

    Article  PubMed  CAS  Google Scholar 

  15. Lu J, Danielsen M. A Stu I polymorphism in the human androgen receptor gene (AR). Clin Genet. 1996;49:323–4.

    Article  PubMed  CAS  Google Scholar 

  16. Monien S, Kadecki O, Baumgarten S, Salama A, Dörner T, Kiesewetter H. Use of heparin in women with early and late miscarriages with and without thrombophilia. Clin Appl Thromb Hemost. 2009;15(6):636–44.

    Article  PubMed  CAS  Google Scholar 

  17. Quigley CA, De Bellis A, Marschke KB, Marschke KB, Marschke KB, el-Awady MK, et al. Androgen receptor defects: historical, clinical, and molecular perspectives. Endocr Rev. 1995;16:271–321.

    PubMed  CAS  Google Scholar 

  18. Rai R, Regan L. Recurrent miscarriage. Lancet. 2006;368(9535):601–11.

    Article  PubMed  Google Scholar 

  19. Redline RW. Thrombophilia and placental pathology. Clin Obstet Gynecol. 2006;49(4):885–94.

    Article  PubMed  Google Scholar 

  20. Regan L. Overview of recurrent miscarriage. Gynaecol Forum. 1998;3:3–7.

    Google Scholar 

  21. Shiina H, Matsumoto T, Sato T, Igarashi K, Miyamoto J, Takemasa S, et al. Premature ovarian failure in androgen receptor-deficient mice. Proc Natl Acad Sci USA. 2006;103(1):224–9.

    Article  PubMed  CAS  Google Scholar 

  22. Tempfer C, Unfried G, Zeillinger R, Hefler L, Nagele F, Huber JC. Endothelial nitric oxide synthase gene polymorphism in women with idiopathic recurrent miscarriage. Hum Reprod. 2001;16(8):1644–7.

    Article  PubMed  CAS  Google Scholar 

  23. Toth B, Jeschke U, Rogenhofer N, Scholz C, Würfel W, Thaler CJ, et al. Recurrent miscarriage: current concepts in diagnosis and treatment. J Reprod Immunol. 2010;85(1):25–32.

    Article  PubMed  CAS  Google Scholar 

  24. Walters KA, Allan CM, Jimenez M, Lim PR, Davey RA, Zajac JD, et al. Female mice haploin sufficient for an inactivated androgen receptor (AR) exhibit age-dependent defects that resemble the AR null phenotype of dysfunctional late follicle development, ovulation, and fertility. Endocrinology. 2007;148(8):3674–84.

    Article  PubMed  CAS  Google Scholar 

  25. Walter KA, Simanainen U, Handelsman DJ. Molecular insights into androgen actions in male and female reproductive function from androgen receptor knockout models. Hum Reprod Update. 2010;16(5):543–58.

    Article  Google Scholar 

  26. Weihua Z, Ekman J, Almkvist A, Saji S, Wang L, Warner M, et al. Involvement of androgen receptor in 17beta-estradiol-induced cell proliferation in rat uterus. Biol Reprod. 2002;67(2):616–23.

    Article  PubMed  CAS  Google Scholar 

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Correspondence to Tahere Jahaninejad.

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Capsule Our results indicated that the androgen receptor G1733A polymorphism is strongly associated with increased risk for RSA.

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Jahaninejad, T., Ghasemi, N., Kalantar, S.M. et al. StuI polymorphism on the androgen receptor gene is associated with recurrent spontaneous abortion. J Assist Reprod Genet 30, 437–440 (2013). https://doi.org/10.1007/s10815-013-9949-5

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  • DOI: https://doi.org/10.1007/s10815-013-9949-5

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