The relationship between CAG repeat length polymorphism and infertility in Southern Chinese Han women

Objective: To research the relationship between polymorphism of trinucleotide (CAG)n repeat alleles of the Exon 1 of androgen receptor gene and women with polycystic ovary syndrome (PCOS), or with endometriosis. Materials and methods: One hundred and forty-one control women and 74 women with PCOS and with endometriosis were recruited. The (CAG)n repeat alleles were genotyped with 3100 genetic analyser. The repeat number and frequency distributions of (CAG)n alleles were compared and analyzed statistically. Results: The results showed that mean repeat number of the (CAG)n was significantly lower in women with PCOS than in controls (p<0.001). The mean repeat number of the (CAG)n was significantly different between infertile women with endometriosis (p0.05). Conclusions: These data indicated that (CAG)n repeat polymorphism have some influence, but have not a straight relationship in infertile women with PCOS and with endometriosis in this research population. Similar content being viewed by others

Janisch CP, Schubert A. WHO Special Program of Research, Development and Research Training in Human Reproduction (HRP). A summary. Geburtshilfe Frauenheilkd 1991, 51: 9–14. Rosene-Montella K, Keely E, Laifer SA, Lee RV. Evaluation and management of infertility in women: the internists’ role. Ann Intern Med 2000, 132: 973–81. Ferlin A, Bartoloni L, Rizzo G, Roverato A, Garolla A, Foresta C. Androgen receptor gene CAG and GGC repeat lengths in idiopathic male infertility. Mol Hum Reprod 2004, 10: 417–21. Lavery R, Houghton JA, Nolan A, Glennon M, Egan D, Maher M. CAG repeat length in an infertile male population of Irish origin. Genetica 2005, 125: 295–320. Mengual L, Oriola J, Ascaso C, Ballescà JL, Oliva R. An increased CAG repeat length in the androgen receptor gene in azoospermic ICSI candidates. J Androl 2003, 24: 279–84. 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 Acid Res 1999, 22: 33181–6. Mononen N, Ikonen T, Autio V, et al. Androgen receptor CAG polymorphism and prostate cancer risk. Hum Genet 2002, 111: 166–71. Greenland KJ, Beilin J, Castro J, Varghese PN, Zajac JD. Polymorphic CAG repeat length in the androgen receptor gene and association with neurodegeneration in a heterozygous female carrier of Kennedy’s disease. J Neurol 2004, 251: 35–41. Syrjäkoski K, Hyytinen ER, Kuukasjärvi T, et al. Androgen receptor gene alterations in Finnish male breast cancer. Breast Cancer Res Treat 2003, 77: 167–70. MacLean HE, Brown RW, Beilin J, Warne GL, Zajac JD. Increased frequency of long androgen receptor CAG repeats in male breast cancers. Breast Cancer Res Treat 2004, 88: 239–46. Foley R, Hollywood D, Lawler M. Molecular pathology of prostate cancer: the key to identifying new biomarkers of disease. Endocr Relat Cancer 2004, 11: 477–88. Brys M, Wöjcik M, Romanowicz-Makowska H, Krajewska WM. Androgen receptor status in female breast cancer: RT-PCR and Western blot studies. J Cancer Res Clin Oncol 2002, 128: 85–90. Ibáñez L, Ong KK, Mongan N, et al. Androgen Receptor Gene CAG Repeat Polymorphism in the Development of Ovarian Hyperandrogenism. J Clin Endocrinol Metab 2003, 88: 3333–8. Van Nieuwerburgh F, Stoop D, Cabri P, Dhont M, Deforce D, De Sutter P. Shorter CAG repeats in the androgen receptor gene may enhance hyperandrogenicity in polycystic ovary syndrome. Gynecol Endocrinol 2008, 24: 669–73. 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. Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Fertil Steril 2004, 81: 19–25. Mifsud A, Ramirez S, Yong EL. Androgen receptor gene CAG trinucleotide repeats in anovulatory infertility and polycystic ovaries. J Clin Endocrinol Metab 2000, 85: 3484–8. Beilin J, Ball EM, Favaloro JM, Zajac JD. Effect of the androgen receptor CAG repeat polymorphism on transcriptional activity: specificity in prostate and non-prostate cell lines. J Mol Endocrinol 2000, 25: 85–96. Brenner RM, Slayden OD, Critchley HO. Anti-proliferative effects of progesterone antagonists in the primate endometrium: a potential role for the androgen receptor. Reproduction 2002, 124: 167–72. Slayden OD, Brenner RM. Hormonal regulation and localization of estrogen, progestin and androgen receptors in the endometrium of nonhuman primates: effects of progesterone receptor antagonists. Arch Histol Cytol 2004, 67: 393–409. Okon MA, Laird SM, Tuckerman EM, Li TC. Serum androgen levels in women who have recurrent miscarriages and their correlation with markers of endometrial function. Fertil Steril 1998, 69: 682–90. Urbanek M, Legro RS, Driscoll DA, et al. Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin. Proc Natl Acad Sci U S A 1999, 96: 8573–8. Author information Authors and Affiliations Corresponding author Rights and permissions About this article Cite this article Tong, D., Deng, J., Sun, H. et al. The relationship between CAG repeat length polymorphism and infertility in Southern Chinese Han women. J Endocrinol Invest 33, 559–563 (2010). https://doi.org/10.1007/BF03346648 Accepted: Published: Issue date: DOI: https://doi.org/10.1007/BF03346648