Polymorphism of CAG and GGN Repeats of Androgen Receptor Gene in Women with Polycystic Ovary Syndrome

    September 2015 in “ Reproductive Biomedicine Online
    Chun Su Yuan, Chao Gao, Yi Qian, Ying Liu, Shi-Wen Jiang, Yugui Cui, Jiayin Liu
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    TLDR Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
    The study examined the association between CAG and GGN repeat polymorphisms in the androgen receptor (AR) gene and polycystic ovary syndrome (PCOS) in a cohort of 80 women with PCOS and 76 control women. The researchers found no significant difference in CAG repeat lengths between the two groups. However, the PCOS group had a significantly higher frequency of longer GGN repeats, which was also associated with a higher odds ratio for PCOS after X-chromosome inactivation. The AR-GGN repeat mRNA expression was lower in PCOS patients compared to controls. The study concluded that longer GGN repeats in the AR gene are associated with PCOS, suggesting that they could be a genetic risk factor for the condition, while CAG repeat length was not associated with PCOS. The findings indicate that AR activity, potentially influenced by GGN repeat length, could play a role in the development of PCOS, and this could have implications for anti-androgen treatments.
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