Study of IIE 49 Ser Polymorphisms of the Anti-Müllerian Hormone (AMH) Gene and 482 A>G of the Type II Receptor of Anti-Müllerian Hormone (AMHR) in Women with Polycystic Ovary Syndrome (PCOS)

This study investigated the role of anti-Müllerian hormone (AMH) in polycystic ovary syndrome (PCOS) using a genetic approach, focusing on the Ile 49 Ser polymorphism. The study included 1,101 women, with 791 having PCOS and 310 as healthy controls. Results showed no significant association between the Ile 49 Ser polymorphism and PCOS, suggesting that AMH signaling was not directly involved in the syndrome's pathogenesis. However, the AMHR2-482A>G polymorphism was significantly associated with PCOS, indicating an increased risk and linking it to lower LH levels and LH/FSH ratios in affected women. This suggests that the AMHR2-482A>G polymorphism may affect follicular function due to altered AMH signaling.