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 -482 A>G polymorphism genotyping were performed in a large cohort of women 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: The AMHR2 polymorphism was more common in women with PCOS than in control women (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.
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 -482 A>G polymorphism genotyping were performed in a large cohort of women 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: The AMHR2 polymorphism was more common in women with PCOS than in control women (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.
Authors: Marlies Voorhuis; Frank J Broekmans; Bart C J M Fauser; N Charlotte Onland-Moret; Yvonne T van der Schouw Journal: J Clin Endocrinol Metab Date: 2010-12-30 Impact factor: 5.958
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Authors: Marlies E Kevenaar; Axel P N Themmen; Joop S E Laven; Barbara Sonntag; Sharon Lie Fong; André G Uitterlinden; Frank H de Jong; Huibert A P Pols; Manuela Simoni; Jenny A Visser Journal: Hum Reprod Date: 2007-03-02 Impact factor: 6.918
Authors: Marlies E Kevenaar; Axel P N Themmen; Fernando Rivadeneira; André G Uitterlinden; Joop S E Laven; Natasja M van Schoor; Paul Lips; Huibert A P Pols; Jenny A Visser Journal: Hum Reprod Date: 2007-07-18 Impact factor: 6.918
Authors: Lidija K Gorsic; Gulum Kosova; Brian Werstein; Ryan Sisk; Richard S Legro; M Geoffrey Hayes; Jose M Teixeira; Andrea Dunaif; Margrit Urbanek Journal: J Clin Endocrinol Metab Date: 2017-08-01 Impact factor: 5.958