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J Clin Endocrinol Metab. 2013 Nov;98(11):E1866-70. doi: 10.1210/jc.2013-2458. Epub 2013 Aug 22.

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

Author information

1
Department of Obstetrics and Gynecology, Division of Reproductive Endocrinology, University of Patras Medical School, University Hospital, 26500 Patras, Greece. neoklisg@hol.gr.

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 -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.

PMID:
23969185
PMCID:
PMC5399526
DOI:
10.1210/jc.2013-2458
[Indexed for MEDLINE]
Free PMC Article

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