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Androgen Receptor Gene Cytosine, Adenine, and Guanine Trinucleotide Repeats in Patients With Endometriosis

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Abstract

Objective

A genetic variation in the androgen receptor (AR) has been associated with the risk of developing endometriosis. The AR gene is located on the X chromosome and contains a highly polymorphic trinucleotide repeat (cytosine, adenine, and guanine: CAG) in its first exon, whose length and methylation pattern affect both AR expression and function. Thus, we sought to further investigate the potential association between endometriosis and the AR-CAG polymorphism.

Methods

Genomic DNA was obtained from a consecutive series of 197 white Italian women of reproductive age who underwent laparoscopy for benign gynecologic pathologies. Molecular analysis of AR-CAG repeats was performed by polymerase chain reaction amplification and Genescan evaluation. The pattern of CAG repeat distribution was compared between subjects with and without endometriosis.

Results

Endometriosis was documented in 105 women (stage I-II in 33 women and stage III-IV in 12 women). We found no difference in the number of AR-CAG repeats between women with endometriosis and controls. The CAG repeat length ranged from eight to 27 (mean ± standard deviation, 17.4 ± 1.9) for endometriosis patients and from 11 to 27 (mean ± standard deviation, 17.4 ± 2) for controls. Moreover, no association was found between AR gene polymorphisms and the various clinical manifestations of the disease.

Conclusion

We conclude that AR-CAG repeat length does not constitute an important f actor f or the genetic predisposition to endometriosis.

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References

  1. Hickey T, Chandy A, Norman RJ. The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome. J Clin Endocrinol Metab 2002;87:161–5.

    Article  CAS  Google Scholar 

  2. Westberg L, Baghaei F, Rosmond R, et al. Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women. J Clin Endocrinol Metab 2001;86:2562–8.

    CAS  PubMed  Google Scholar 

  3. Giguere Y, Dewailly E, Brisson J, et al. Short polyglutamine tracts in the androgen receptor are protective against breast cancer in the general population. Cancer Res 2001;61:5869–74.

    CAS  PubMed  Google Scholar 

  4. Santarosa M, Bidoli E, Gallo A, et al. Polymorphic CAG repeat length within the androgen receptor gene: Identification of a subgroup of patients with increased risk of ovarian cancer. Oncol Rep 2002;9:639–44.

    CAS  PubMed  Google Scholar 

  5. Hsieh YY, Chang CC, Tsai FJ, et al. Androgen receptor trinucleotide polymorphism in endometriosis. Fertil Steril 2001;76: 412–3.

    Article  CAS  Google Scholar 

  6. Hadfield RM, Mardon HJ, Barlow DH, et al. Endometriosis in monozygotic twins. Fertil Steril 1997;68:941–2.

    Article  CAS  Google Scholar 

  7. Campbell I, Thomas E. Endometriosis: Candidate genes. Hum Reprod Update 2001;7:15–20.

    Article  CAS  Google Scholar 

  8. Fujimoto J, Hirose R, Sakaguchi H, et al. Expression of size-polymorphic androgen receptor (AR) gene in ovarian endometriosis according to the number of cytosine, adenine, and guanine (CAG) repeats in AR alleles. Steroids 1999;64:526–9.

    Article  CAS  Google Scholar 

  9. Ferro P, Catalano MG, Dell’Eva R, et al. The androgen receptor CAG repeat: A modifier of carcinogenesis? Mol Cell Endocrinol 2002;193:109–20.

    Article  CAS  Google Scholar 

  10. American Society for Reproductive Medicine. Revised American Society for Reproductive Medicine classification of endometriosis: 1996. Fertil Steril 1997;67:817–21.

    Article  Google Scholar 

  11. Pelotti S, Maiolini E, Bini C, et al. Automated fluorescence analysis of CAC repeates at human androgen receptor gene (HUMARA): Evaluation of polymorphism in an Italian sample and report of new allele. Am J Forensic Med Pat 2001;22:55–7.

    Article  CAS  Google Scholar 

  12. Vottero A, Stratakis CA, Ghizzoni L, et al. Androgen receptor-mediated hypersensivity to androgens in women with non hyperandrogenic hirsutism: Skewing of X-chromosome inactivation. J Clin Endocrinol Metab 1999;84:1091–5.

    CAS  PubMed  Google Scholar 

  13. Coetzee GA, Ross RK. Prostate cancer and the androgen receptor. J Natl Cancer Inst 1994;86:872–3.

    Article  CAS  Google Scholar 

  14. Mifsud A, Ramirez S, Young EL. Androgen receptor gene CAG trinucleotide repeats in anovulatory infertility and polycystic ovaries. J Clin Endocrinol Metab 2000;85:3484–8.

    Article  CAS  Google Scholar 

  15. Fujimoto J, Nishigaki M, Hon M, et al. The effect of estrogen and androgen on androgen receptor and mRNA levels in uterine leiomyoma, myometrium and endometrium of human subjects. J Steroid Biochem Mol Biol 1994;50:137–43.

    Article  CAS  Google Scholar 

  16. Baranova H, Canis M, Ivaschenko T, et al. Possible involvement of arylamine N-acetyltransferase 2, glutathione S-trasferases Ml and T1 genes in the development of endometriosis. Mol Hum Reprod 1999;5:636–41.

    Article  CAS  Google Scholar 

  17. Baxter SW, Thomas E, Campbell I. GSTM1 null polymorphism and susceptibility to endometriosis and ovarian cancer. Carcinogenesis 2001;22:63–5.

    Article  CAS  Google Scholar 

  18. Edwards A, Hammond HA, Jin L, et al. Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics 1992;12:241–53.

    Article  CAS  Google Scholar 

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Authors and Affiliations

  1. Molecular Biology Laboratory Istituto Auxologico Italiano, and Department of Obstetrics and Gynecology, University of Milan, Via Zucchi, 18-20095, Cusano, Milan, Italy

    Debora Lattuada PhD, Paola Viganò PhD, Edgardo Somigliana MD, Maria Paola Odorizzi MD, Mario Vignali MD & Anna Maria Di Blasio MD

Authors
  1. Debora Lattuada PhD
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  2. Paola Viganò PhD
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  3. Edgardo Somigliana MD
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  4. Maria Paola Odorizzi MD
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  5. Mario Vignali MD
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  6. Anna Maria Di Blasio MD
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Corresponding author

Correspondence to Anna Maria Di Blasio MD.

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Lattuada, D., Viganò, P., Somigliana, E. et al. Androgen Receptor Gene Cytosine, Adenine, and Guanine Trinucleotide Repeats in Patients With Endometriosis. Reprod. Sci. 11, 237–240 (2004). https://doi.org/10.1016/j.jsgi.2003.11.002

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  • DOI: https://doi.org/10.1016/j.jsgi.2003.11.002

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