Increased frequency of the anti-müllerian-inhibiting hormone receptor 2 (AMHR2) 482 A>G polymorphism in women with polycystic ovary syndrome: Relationship to luteinizing hormone levels

Abstract

Context: The polycystic ovary syndrome (PCOS) is a common and complex disease without a clear pattern of inheritance. Anti-Müllerian hormone (AMH) has an inhibitory effect on FSH-stimulated follicle growth. Serum AMH levels are higher in women with PCOS than in normo-ovulatory women. The elevated AMH levels may reflect abnormalities in AMH signaling. Objective: The purpose of this study was to evaluate the association of the anti-Müllerian hormone receptor 2 (AMHR2) -482 A>G polymorphism (rs2002555) with the pathophysiology of PCOS. Design:AMHR2-482A>Gpolymorphism genotyping were performed in a large cohort ofwomen with PCOS and in a healthy control group. Setting/Subjects: A total of 858 Caucasian Greek women with PCOS and 309 healthy control women were studied. Interventions: Genotyping and hormonal measurements were preformed. Main Outcome Measures: Hormone levels in women with PCOS were analyzed. Results:TheAMHR2polymorphismwasmorecommoninwomenwithPCOSthan in controlwomen (P = .026). Homozygous AMHR2 -482 A>G gene polymorphisms (GG) were associated with decreased levels of LH (P = .003) and lower LH to FSH ratios (P = .01) in women with PCOS, as well as with lower prolactin levels (P = .004). No other associations related to AMHR2 -482 A>G polymorphisms were observed in women with PCOS or control women. Conclusion: In this study, the role of the AMHR2 -482 A>G gene polymorphism in the pathogenesis of PCOS was suggested by the association of the variant with PCOS risk. Thus, further research is needed to elucidate a possible association of the AMHR2 -482 A>G gene polymorphism with AMH signaling and impaired ovarian function and its clinical significance in women with PCOS. Copyright © 2013 by The Endocrine Society.