Significance of the Polyglutamine Tract Polymorphism in the Androgen Receptor

    November 2001 in “ Urology ”
    Roberto Casella, Maria Rosa Maduro, Larry I. Lipshultz, Dolores J. Lamb
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    TLDR The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
    The document from November 1, 2001, reviews the impact of the polyglutamine tract polymorphism in the androgen receptor (AR) gene on various urologic diseases and conditions. It explains that the length of the CAG repeat in the AR gene varies among individuals and ethnic groups, affecting AR function, with shorter repeats enhancing androgen action and longer repeats decreasing it. The review connects longer CAG repeats with Kennedy's disease and male infertility, and shorter repeats with an increased risk and progression of prostate cancer, although the evidence is not consistent across studies. A study of 318 prostate cancer patients found that those with shorter AR CAG repeats had a higher risk of recurrence, while a study of 176 BPH patients suggested shorter repeats might promote BPH growth. Additionally, a study of 78 patients with undermasculinized genitalia found a significant association with longer polyglutamine tracts. The document concludes that AR CAG repeat length has clinical relevance for predicting disease progression and treatment response in prostate cancer and BPH, assessing infertility risk, and undermasculinized genitalia, emphasizing the need for further research to validate its use as a potential screening tool.
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