Skip to main content
Log in

Androgen Receptor Trinucleotide Polymorphism in Leiomyoma

  • Physiology
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Objective: Androgen receptor (AR) was detected in leiomyoma. AR gene has a polymorphic microsatellite encoding cytosine, adenine, and guanine (CAG) repeats. We aimed to investigate the association between the AR gene CAG repeats and leiomyoma.

Methods: Women were divided into two groups: (1) leiomyoma (n=159); (2) non- leiomyoma groups (n=129). Their CAG repeats were detected by polymerase chain reaction. The CAG repeats ranged in length from 168 bp (9 CAG repeats, genotype A) to 234 bp (31 CAG repeats, genotype W). Distributions of CAG repeats in both groups were compared.

Results: Genotype proportions of different CAG repeats for AR gene in both groups were significantly different. The genotype S (27 CAG repeats) is associated with higher susceptibility of leiomyoma. Distribution of CAG repeats in both groups appeared mono-peak distributions. Percentages of genotypes K-S (19–27 CAG repeats) in leiomyoma and non-leiomyoma groups were: (1) 5, 11, 19.5, 10.4, 12.9, 8.8, 7.5, 5.7, 4.4%; (2) 5.4, 14.3, 16.7, 12.8, 12.4, 5.8, 9.3, 7, 1.2%.

Conclusions: AR trinucleotide polymorphism is associated with leiomyoma susceptibility. The 27 CAG repeats is related with higher risk of leiomyoma.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  • Cramer DW: Epidemiology of myomas. Semin Reprod Endo- crinol 1992;10:320–324

    Google Scholar 

  • Townsend DE, Sparkes RS, Baluda MC, McClelland G: Unicellular histogenesis of uterine leiomyomas as determined by electrophoresis by glucose-6-phosphate dehydrogenase. Am J Obstet Gynecol 1970;107:1168–1173

    Google Scholar 

  • Reeve AE, Eccles MR, Wilkins RJ, Bell GI, Millow LJ: Expression of insulin-like growth factor-II transcripts in Wilms’ tumour. Nature 1985;317:258–260

    Article  Google Scholar 

  • El-Badry OM, Helman LJ, Chatten J, Steinberg SM, Evans AE, Israel MA: Insulin-like growth factor II-mediated proliferation of human neuroblastoma. J Clin Invest 1991;87:648–657

    Google Scholar 

  • Mitsumori K, Terai A, Oka H, Segawa T, Ogura K, Yoshida O, Ogawa O: Androgen receptor CAG repeat length polymorphism in benign prostatic hyperplasia (BPH): correlation with adenoma growth. Prostate 1999;41:253–257

    Google Scholar 

  • Westberg L, Baghaei F, Rosmond R, Hellstrand M, Landen M, Jansson M, Holm G, Bjorntorp P, Eriksson E: Polymorphisms of the androgen receptor gene and the estrogen receptor beta gene are associated with androgen levels in women. J Clin Endocrinol Metab 2001;86:2562–2568

    Article  CAS  PubMed  Google Scholar 

  • Hsieh YY, Chang CC, Tsai FJ, Wu JY, Tsai CC, Tsai HD: Androgen receptor trinucleotide polymorphism in endometriosis. Fertil Steril. 2001;76:412–413

    Article  Google Scholar 

  • Chen WC, Wu HC, Lin WC, Wu MC, Hsu CD, Tsai FJ: The association of androgen- and oestrogen-receptor gene polymorphisms with urolithiasis in men. BJU Int 2001;88:432–436

    Article  Google Scholar 

  • Mashal RD, Fejzo ML, Friedman AJ, Mitchner N, Nowak RA, Rein MS, Morton CC, Sklar J: Analysis of androgen receptor DNA reveals the independent clonal origins of uterine leiomyomata and the secondary nature of cytogenetic aberrations in the development of leiomyomata. Genes Chromosomes Cancer 1994;11:1–6

    Google Scholar 

  • Soules MR, McCarty KS: Leiomyomas steroid receptor content. Am J Obstet Gynecol 1982;143:6–11

    Google Scholar 

  • Wang PH, Lee WL, Chao HT, Shu LP, Kao HL, Wu CW, Yuan CC: Relationship between hormone receptor concentration and tumor shrinkage in uterine myoma after treatment with a GnRHa. Chung Hua I Hsueh Tsa Chih (Taipei) 1999;62:294–299

    Google Scholar 

  • Friedman AJ, Rein MS, Pandian MR, Barbieri RL: Fasting serum growth hormone and insulin-like growth factor-I and -II concentrations in women with leiomyomata uteri treated with leuprolide acetate or placebo. Fertil Steril 1990;53:250–253

    Google Scholar 

  • Chrapusta S, Konopka B, Paszko Z, Sieinski W, Szamborski J: Immunoreactive and estrogen-binding estrogen receptors, and progestin receptor levels in uterine leiomyomata and their parental myometrium. Eur J Gynaecol Oncol 1990;11:275–281

    Google Scholar 

  • Horie K, Takakura K, Imai K, Liao S, Mori T: Immunohistochemical localization of androgen receptor in the human endometrium, decidua, placenta and pathological conditions of the endometrium. Hum Reprod 1992;7:1461–1466

    Google Scholar 

  • Sano M, Inoue S, Hosoi T, Ouchi Y, Emi M, Shiraki M, et al.: Association of estrogen receptor dinucleotide repeat polymorphism with osteeoporosis. Biochem Biophys Res Commun 1995;217:378–383

    Article  CAS  PubMed  Google Scholar 

  • Andersen TI, Heimdal KR, Skrede M, Tveit K, Berg K, Borresen AL: Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility. Hum Genet 1994;94:665–670

    Google Scholar 

  • Lehrer SP, Schmutzler TK, Rabin JM, Schachter BS: An estrogen receptor genetic polymorphism and a history of spontaneous abortions. Correlation in women with estrogen receptor positive breast cancer but not in women with estrogen receptor negative breast cancer or in women without cancer. Breast Cancer Res Treat 1993;26:175–180

    Article  Google Scholar 

  • Fujimoto J, Hirose R, Sakaguchi H, Tamaya T: Expression of size-polymorphic androgen receptor gene in uterine leiomyoma according to the number of cytosine, adenine, and guanine repeats in androgen receptor alleles. Tumour Biol 2000;21:33–37

    Article  Google Scholar 

  • Kitawaki J, Obayashi H, Ishihara H, Koshiba H, Kusuki I, Kado N, Tsukamoto K, Hasegawa G, Nakamura N, Honjo H: Oestrogen receptor-alpha gene polymorphism is associated with endometriosis, adenomyosis and leiomyomata. Hum Reprod 2001;16:51–55

    Article  Google Scholar 

  • Hashimoto K, Azuma C, Kamiura S, Koyama M, Nobunaga T, Tokugawa Y, Kimura T, Kubota Y, Sawai K, Saji F: Maintenance of imprinting of the insulin-like growth factor II gene (IGF2) and the small nuclear ribonucleoprotein polypeptide N gene (SNRPN) in the human uterus and leiomyoma. Gynecol Obstet Invest 1996;41:50–54

    Google Scholar 

  • Stanford JL, Just JJ, Gibbs M, Wicklund KG, Neal CL, Blumenstein BA, Ostrander EA: Polymorphic repeats in the androgen receptor gene: Molecular markers of prostate cancer risk. Cancer Res 1997;57:194–198

    Google Scholar 

  • Sasaki M, Dahiya R, Fujimoto S, Ishikawa M, Oshimura M: The expansion of the CAG repeat in exon 1 of the human androgen receptor gene is associated with uterine endometrial carcinoma. Mol Carcinog 2000;27:237–244

    Google Scholar 

  • Chadha S, Pache TD, Huikeshoven JM, Brinkmann AO, van der Kwast TH: Androgen receptor expression in human ovarian and uterine tissue of long-term androgen-treated transsexual women. Hum Pathol 1994;25:1198–1204

    Article  Google Scholar 

  • Yu H, Bharaj B, Vassilikos EJ, Giai M, Diamandis EP: Shorter CAG repeat length in the androgen receptor gene is associated with more aggressive forms of breast cancer. Breast Cancer Res Treat 2000;59:153–161

    Article  Google Scholar 

  • Biancalana V, Serville F, Pommier J, Julien J, Hanauer A, Mandel JL: Moderate instability of the trinucleotide repeat in spino bulbar muscular atrophy. Hum Mol Genet 1992;1:255–258

    Google Scholar 

  • Calvo RM, Asuncion M, Sancho J, San Millan JL, Escobar-Morreale HF: The role of the CAG repeat polymorphism in the androgen receptor gene and of skewed X-chromosome inactivation, in the pathogenesis of hirsutism. J Clin Endocrinol Metab 2000;85:1735–1740

    Article  Google Scholar 

  • Komori S, Kasumi H, Kanazawa R, Sakata K, Nakata Y, Kato H, Koyama K: CAG repeat length in the androgen receptor gene of infertile Japanese males with oligozoospermia. Mol Hum Reprod 1999;5:14–16

    Article  Google Scholar 

  • Belsham DD, Yee WC, Greenberg CR, Wrogemann K: Analysis of the CAG repeat region of the androgen receptor gene in a kindred with X-linked spinal and bulbar muscular atrophy. J Neurol Sci 1992;112:133–138

    Article  Google Scholar 

  • Mori K, Ushiyama T, Inoue K, Hukuda S: Polymorphic CAG repeats of the androgen receptor gene in Japanese male patients with ankylosing spondylitis. Rheumatology (Oxford) 2000;39:530–532

    Google Scholar 

  • Garofalo O, Figlewicz DA, Leigh PN, Powell JF, Meininger V, Dib M, Rouleau GA: Androgen receptor gene polymorphisms in amyotrophic lateral sclerosis. Neuromuscul Disord 1993;3:195–199

    Article  Google Scholar 

  • Alonso ME, Yescas P, Cisneros B, Martinez C, Silva G, Ochoa A, Montanez C: Analysis of the (CAG)n repeat causing Huntington’s disease in a Mexican population. Clin Genet 1997;51:225–230

    Google Scholar 

  • Levine DA, Boyd J: The androgen receptor and genetic susceptibility to ovarian cancer: results from a case series. Cancer Res 2001;61:908–911

    Google Scholar 

  • Mifsud A, Sim CK, Boettger-Tong H, Moreira S, Lamb DJ, Lipshultz LI, Yong EL: Trinucleotide (CAG) repeat polymorphisms in the androgen receptor gene: molecular markers of risk for male infertility. Fertil Steril 2001;75:275–281

    Article  Google Scholar 

  • Menin C, Banna GL, de Salvo G, Lazzarotto V, de Nicolo A, Agata S, Montagna M, Sordi G, Nicoletto O, Chieco-Bianchi L, D’Andrea E: Lack of association between androgen receptor CAG polymorphism and familial breast/ovarian cancer. Cancer Lett 2001;168:31–36

    Article  Google Scholar 

  • Miller EA, Stanford JL, Hsu L, Noonan E, Ostrander EA: Polymorphic repeats in the androgen receptor gene in high-risk sibships. Prostate 2001;48:200–205

    Article  Google Scholar 

  • Wiener JS, Marcelli M, Gonzales ET Jr, Roth DR, Lamb DJ: Androgen receptor gene alterations are not associated with isolated cryptorchidism. J Urol 1998;160:863–865

    Article  Google Scholar 

  • Suzuki Y, Sasagawa I, Tateno T, Ashida J, Nakada T, Muroya K, Ogata T: Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter’s syndrome patients with and without spermatogenesis. Hum Reprod 2001;16:1653–1656

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Fuu-Jen Tsai.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Hsieh, YY., Chang, CC., Tsai, FJ. et al. Androgen Receptor Trinucleotide Polymorphism in Leiomyoma. J Assist Reprod Genet 21, 453–457 (2004). https://doi.org/10.1007/s10815-004-8762-6

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-004-8762-6

Navigation